GA1
MCID: GLT035
MIFTS: 47

Glutaric Acidemia I (GA1)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Glutaric Acidemia I

MalaCards integrated aliases for Glutaric Acidemia I:

Name: Glutaric Acidemia I 57 12 25 44
Glutaryl-Coa Dehydrogenase Deficiency 57 12 75 53 25 59 74
Ga1 57 12 59 74
Glutaric Aciduria, Type 1 29 6 72
Glutaricaciduria, Type I 57 13 6
Glutaric Acidemia Type I 53 25 74
Glutaric Acidemia Type 1 53 25 59
Glutaric Aciduria 1 12 53 74
Glutaryl-Coenzyme a Dehydrogenase Deficiency 12 59
Glutaric Aciduria I 57 25
Ga I 57 25
Glutaric Aciduria, Type I 75
Brain Diseases, Metabolic 44
Glutaric Academia Type 1 12
Glutaric Aciduria Type I 12
Glutaric Aciduria Type 1 59
Glutaricaciduria, Type 1 40
Glutaric Acidemia 1 53
Glutaricaciduria I 75
Gcdhd 59
Ga 1 53
Ga-I 74

Characteristics:

Orphanet epidemiological data:

59
glutaryl-coa dehydrogenase deficiency
Inheritance: Autosomal recessive; Prevalence: >1/1000,1-9/100000,1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable clinical presentation ranging from acute onset to normal adult
prevalent in old order amish of lancaster county, pennsylvania and saulteaux/ojibway indians of canada
onset of illness often associated with acute infection
worldwide frequency of 1 in 100,000 infants


HPO:

32
glutaric acidemia i:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111254
OMIM 57 231670
MESH via Orphanet 45 C536833
ICD10 via Orphanet 34 E72.3
UMLS via Orphanet 73 C0268595
Orphanet 59 ORPHA25
MedGen 42 C0268595
UMLS 72 C0268595

Summaries for Glutaric Acidemia I

NIH Rare Diseases : 53 Glutaric acidemia type I (GA1) is a genetic metabolic disorder. People with GA1 don't make enough of one of the enzymes needed to break down certain amino acids found in the proteins we eat. Without enough of the enzyme, the breakdown products of these amino acids build up in tissues of the body. The buildup of these chemicals can damage the brain, especially the area of the brain called the basal ganglia. The basal ganglia helps control the body's movements. Without treatment, newborns with GA1 may at first not have any symptoms other than possibly having a slightly large head. Some, however, may have weak muscles and early signs of developmental delay. For most children with GA1, if untreated, an infection or fever will trigger an episode that causes serious damage to the basal ganglia. In some children, the brain damage will happen without a triggering fever. Damage to the basal ganglia will make it hard for the child to control the movements of their body. The damage cannot be reversed. However if treatment is started in a newborn with GA1 before symptoms begin, 80-90% of people with GA1 will not develop symptoms. Treatment however must be followed strictly, especially for the first six years of life. Treatment includes a low-lysine diet, carnitine supplementaion, and emergency treatment during an fever or acute episode. GA1 is caused by mutations in the GCDH gene and is inherited in an autosomal recessive manner. GA1 is included on the newborn screening panel in most countries.

MalaCards based summary : Glutaric Acidemia I, also known as glutaryl-coa dehydrogenase deficiency, is related to striatonigral degeneration, infantile and branched-chain keto acid dehydrogenase kinase deficiency, and has symptoms including opisthotonus and muscle rigidity. An important gene associated with Glutaric Acidemia I is GCDH (Glutaryl-CoA Dehydrogenase). The drugs Propofol and Mivacurium have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and liver, and related phenotypes are dyskinesia and vomiting

Disease Ontology : 12 An organic acidemia characterized by impaired lysine, hydroxylysine, and tryptophan metabolism, increased urinary excretion of glutaric acid, and accumulation of 3-hydroxyglutaric and glutaric acid, resulting in striatal injury and a severe dystonic dyskinetic movement disorder that has material basis in homozygous or compound heterozygous mutation in GCDH on chromosome 19p13.

Genetics Home Reference : 25 Glutaric acidemia type I is an inherited disorder in which the body is unable to process certain proteins properly. People with this disorder have inadequate levels of an enzyme that helps break down the amino acids lysine, hydroxylysine, and tryptophan, which are building blocks of protein. Excessive levels of these amino acids and their intermediate breakdown products can accumulate and cause damage to the brain, particularly the basal ganglia, which are regions that help control movement. Intellectual disability may also occur. The severity of glutaric acidemia type I varies widely; some individuals are only mildly affected, while others have severe problems. In most cases, signs and symptoms first occur in infancy or early childhood, but in a small number of affected individuals, the disorder first becomes apparent in adolescence or adulthood. Some babies with glutaric acidemia type I are born with unusually large heads (macrocephaly). Affected individuals may have difficulty moving and may experience spasms, jerking, rigidity, or decreased muscle tone. Some individuals with glutaric acidemia have developed bleeding in the brain or eyes that could be mistaken for the effects of child abuse. Strict dietary control may help limit progression of the neurological damage. Stress caused by infection, fever or other demands on the body may lead to worsening of the signs and symptoms, with only partial recovery.

OMIM : 57 Glutaric acidemia I is an autosomal recessive metabolic disorder characterized by gliosis and neuronal loss in the basal ganglia and a progressive movement disorder that usually begins during the first year of life (Goodman et al., 1995). Hedlund et al. (2006) provided a detailed review of the clinical and biochemical aspects of glutaric acidemia type I. (231670)

UniProtKB/Swiss-Prot : 74 Glutaric aciduria 1: An autosomal recessive metabolic disorder characterized by progressive dystonia and athetosis due to gliosis and neuronal loss in the basal ganglia.

Wikipedia : 75 Glutaric acidemia type 1 is an inherited disorder in which the body is unable to completely break down... more...

Related Diseases for Glutaric Acidemia I

Diseases in the Glutaric Acidemia I family:

Glutaric Acidemia Type Iii

Diseases related to Glutaric Acidemia I via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 122)
# Related Disease Score Top Affiliating Genes
1 striatonigral degeneration, infantile 11.7
2 branched-chain keto acid dehydrogenase kinase deficiency 11.3
3 multiple acyl-coa dehydrogenase deficiency 11.3
4 encephalopathy 10.6
5 leukodystrophy 10.6
6 hypotonia 10.5
7 spasticity 10.5
8 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.4
9 inherited metabolic disorder 10.4
10 autosomal recessive disease 10.4
11 brain injury 10.4
12 severe combined immunodeficiency 10.4
13 hydrocephalus 10.4
14 congenital hydrocephalus 10.4
15 head injury 10.4
16 athetosis 10.3
17 hemidystonia 10.3
18 visual epilepsy 10.3
19 acute kidney failure 10.3
20 kidney disease 10.3
21 seizure disorder 10.3
22 tremor 10.3
23 cerebral organic aciduria 10.3
24 neuroblastoma 1 10.3
25 phenylketonuria 10.3
26 sudden infant death syndrome 10.3
27 ataxia and polyneuropathy, adult-onset 10.3
28 focal dystonia 10.3
29 hepatic coma 10.3
30 hepatic encephalopathy 10.3
31 cerebral palsy 10.3
32 movement disease 10.3
33 rapidly involuting congenital hemangioma 10.3
34 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.1
35 stroke, ischemic 10.1
36 renal hypoplasia 10.1
37 tuberous sclerosis 10.1
38 cerebrovascular disease 10.1
39 anemia, autoimmune hemolytic 10.1
40 maple syrup urine disease 10.1
41 diarrhea 10.1
42 polyneuropathy 10.1
43 dystonia 10.1
44 hemolytic anemia 10.1
45 homocystinuria 10.1
46 triiodothyronine receptor auxiliary protein 10.1
47 acute pancreatitis 10.1
48 pancreatitis 10.1
49 glioma 10.1
50 glial tumor 10.1

Graphical network of the top 20 diseases related to Glutaric Acidemia I:



Diseases related to Glutaric Acidemia I

Symptoms & Phenotypes for Glutaric Acidemia I

Human phenotypes related to Glutaric Acidemia I:

59 32 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dyskinesia 59 32 hallmark (90%) Very frequent (99-80%) HP:0100660
2 vomiting 59 32 hallmark (90%) Very frequent (99-80%) HP:0002013
3 dystonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001332
4 large fontanelles 59 32 hallmark (90%) Very frequent (99-80%) HP:0000239
5 metabolic acidosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001942
6 encephalopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001298
7 macrocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000256
8 joint dislocation 59 32 frequent (33%) Frequent (79-30%) HP:0001373
9 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
10 spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0001257
11 abnormal facial shape 59 32 frequent (33%) Frequent (79-30%) HP:0001999
12 feeding difficulties in infancy 59 32 frequent (33%) Frequent (79-30%) HP:0008872
13 prominent forehead 59 32 frequent (33%) Frequent (79-30%) HP:0011220
14 irritability 59 32 frequent (33%) Frequent (79-30%) HP:0000737
15 abnormality of extrapyramidal motor function 59 32 frequent (33%) Frequent (79-30%) HP:0002071
16 choreoathetosis 59 32 frequent (33%) Frequent (79-30%) HP:0001266
17 abnormality of eye movement 59 32 occasional (7.5%) Occasional (29-5%) HP:0000496
18 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
19 gait disturbance 59 32 occasional (7.5%) Occasional (29-5%) HP:0001288
20 neurological speech impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0002167
21 developmental regression 59 32 occasional (7.5%) Occasional (29-5%) HP:0002376
22 cognitive impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0100543
23 migraine 59 32 occasional (7.5%) Occasional (29-5%) HP:0002076
24 cerebral ischemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002637
25 malignant hyperthermia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002047
26 vertigo 59 32 occasional (7.5%) Occasional (29-5%) HP:0002321
27 coma 59 32 occasional (7.5%) Occasional (29-5%) HP:0001259
28 intracranial hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0002170
29 hemiplegia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002301
30 abnormal retinal vascular morphology 32 occasional (7.5%) HP:0008046
31 failure to thrive 32 HP:0001508
32 hepatomegaly 32 HP:0002240
33 hypoglycemia 32 HP:0001943
34 abnormality of movement 59 Frequent (79-30%)
35 generalized hypotonia 32 HP:0001290
36 abnormality of the retinal vasculature 59 Occasional (29-5%)
37 rigidity 32 HP:0002063
38 spastic diplegia 32 HP:0001264
39 ketonuria 32 HP:0002919
40 opisthotonus 32 HP:0002179
41 delayed myelination 32 HP:0012448
42 dilation of lateral ventricles 32 HP:0006956
43 infantile encephalopathy 32 HP:0007105
44 symmetrical progressive peripheral demyelination 32 HP:0006873
45 glutaric acidemia 32 HP:0003530
46 glutaric aciduria 32 HP:0003150
47 hyperketonemia 32 HP:0410175

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly

Abdomen Liver:
hepatomegaly

Neurologic Central Nervous System:
dystonia
rigidity
choreoathetosis
spastic diplegia
opisthotonus
more
Growth Other:
failure to thrive

Laboratory Abnormalities:
hypoglycemia
metabolic acidosis
ketonuria
glutaricaciduria
glutaryl-coa dehydrogenase deficiency
more

Clinical features from OMIM:

231670

UMLS symptoms related to Glutaric Acidemia I:


opisthotonus, muscle rigidity

Drugs & Therapeutics for Glutaric Acidemia I

Drugs for Glutaric Acidemia I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propofol Approved, Investigational, Vet_approved 2078-54-8 4943
2
Mivacurium Approved 133814-19-4, 106791-40-6 5281042
3
Atracurium Approved, Experimental, Investigational 64228-79-1 47319
4
carbamide peroxide Approved 124-43-6
5
Thrombin Approved, Investigational
6
Ornithine Approved, Nutraceutical 70-26-8, 3184-13-2 6262
7
Creatine Approved, Investigational, Nutraceutical 57-00-1 586
8 Analgesics
9 Central Nervous System Depressants
10 Anesthetics
11 Calamus

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 A Randomized Comparison of Concomitant Incontinence Procedures Performed With Abdominal Sacral Colpopexy: the Burch Versus Mid-urethral Sling Trial Completed NCT00934999 Phase 4
2 Augmentation of Umbilical Cord Blood Transplantation for Inherited Metabolic Diseases With Intrathecal Administration of Human Umbilical Cord Blood-Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
3 Assessing Neural Mechanisms of Injury in Inborn Errors of Urea Metabolism Using Structural MRI, Functional MRI, and Magnetic Resonance Spectroscopy Completed NCT00472732
4 Evaluation of a Novel PET Radioligand to Image OGA Completed NCT03632226 18F-OGA-1
5 Monitoring the Depth of Anaesthesia in Children in the Course of a Surgical Procedure Using the BIS Monitor - Prospective Randomized Study Completed NCT02664142 Anaesthetics
6 Longitudinal Study of Urea Cycle Disorders Recruiting NCT00237315
7 Observational and Cross-Sectional Cohort Study of the Natural History and Phenotypic Spectrum of Farber Disease Recruiting NCT03233841
8 Observational Study of Males With Creatine Transporter Deficiency Recruiting NCT02931682
9 Physiologic Biomarkers Predicting Ventilatory Instability and Hypoxemia in Pre Mature Infants Recruiting NCT03464396
10 Prognostic Significance of Fatty Liver Disease in Bariatric Patients Not yet recruiting NCT03535142
11 A Clinical Trial to Identify Genetic Variations That Affect The Ability of Patients To Metabolize Drugs Through Metabolic Pathways 2C19, 2C9, 2D6, 3A4, 3A5, Factor II, Factor V, MTHFR and VKORC1 Terminated NCT02525887
12 Neurodevelopmental Outcome of Early Dietary Lysine Restriction in Pyridoxine Withdrawn NCT01795170 Pyridoxine
13 Hepatic Encephalopathy: Lactulose or Polyethylene Glycol (H.E.L.P.) Withdrawn NCT01923376 Lactulose;Polyethylene Glycol 3350

Search NIH Clinical Center for Glutaric Acidemia I

Cochrane evidence based reviews: brain diseases, metabolic

Genetic Tests for Glutaric Acidemia I

Genetic tests related to Glutaric Acidemia I:

# Genetic test Affiliating Genes
1 Glutaric Aciduria, Type 1 29 GCDH

Anatomical Context for Glutaric Acidemia I

MalaCards organs/tissues related to Glutaric Acidemia I:

41
Brain, Eye, Liver, Cortex, Testes, Skeletal Muscle

Publications for Glutaric Acidemia I

Articles related to Glutaric Acidemia I:

(show top 50) (show all 123)
# Title Authors PMID Year
1
Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency. 38 8 71
17478444 2007
2
Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia. 8 71
21912879 2012
3
Mutation analysis in glutaric aciduria type I. 8 71
10699052 2000
4
Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish. 8 71
8900227 1996
5
Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli. 8 71
8541831 1995
6
Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I). 38 8
17203377 2007
7
Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency. 38 8
15985591 2005
8
Type I glutaric aciduria, part 1: natural history of 77 patients. 38 8
12888985 2003
9
Variable clinical and biochemical presentation of seven Spanish cases with glutaryl-CoA-dehydrogenase deficiency. 38 8
8552212 1995
10
Early signs and course of disease of glutaryl-CoA dehydrogenase deficiency. 38 8
7564239 1995
11
Prenatal diagnosis of glutaryl-CoA dehydrogenase deficiency: experience using first-trimester chorionic villus sampling. 38 8
8084854 1994
12
Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I. 38 6
28389991 2017
13
Use of guidelines improves the neurological outcome in glutaric aciduria type I. 8
21031586 2010
14
Glutaric acidemia type 1. 8
16602100 2006
15
The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I. 8
15670719 2005
16
Adult onset glutaric aciduria type I presenting with a leukoencephalopathy. 8
12473778 2002
17
Acute encephalopathy despite early therapy in a patient with homozygosity for E365K in the glutaryl-coenzyme A dehydrogenase gene. 71
11174631 2001
18
Age at symptom onset predicts severity of motor impairment and clinical outcome of glutaric acidemia type 1. 8
11060535 2000
19
Glutaric aciduria type I in the Arab and Jewish communities in Israel. 71
8900228 1996
20
A G-to-T transversion at the +5 position of intron 1 in the glutaryl CoA dehydrogenase gene is associated with the Island Lake variant of glutaric acidemia type I. 71
7795610 1995
21
Dystonia and dyskinesia in glutaric aciduria type I: clinical heterogeneity and therapeutic considerations. 8
8139602 1994
22
Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania. 8
1951469 1991
23
Glutaric aciduria type I. Brain CT features and a diagnostic pitfall. 8
2027453 1991
24
Glutaric aciduria type I: clinical heterogeneity and neuroradiologic features. 8
3658174 1987
25
Glutaric aciduria type 1: biochemical investigations and postmortem findings. 8
3792386 1986
26
Glutaric aciduria type I misdiagnosed as Leigh's encephalopathy and cerebral palsy. 8
4029522 1985
27
Glutaric acidemia: a metabolic disorder causing progressive choreoathetosis. 8
6775244 1980
28
Antenatal diagnosis of glutaric acidemia. 8
6893520 1980
29
Glutaric aciduria in progressive choreo-athetosis. 8
624191 1978
30
Glutaric aciduria; a "new" disorder of amino acid metabolism. 8
1137568 1975
31
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision. 6
27853989 2017
32
Glutaric Acid Affects Pericyte Contractility and Migration: Possible Implications for GA-I Pathogenesis. 38
31104295 2019
33
Mild phenotype of glutaric aciduria type 1 in polish patients - novel data from a group of 13 cases. 38
30570710 2019
34
Impairment of astrocytic glutaminolysis in glutaric aciduria type I. 38
29098534 2018
35
Severe neurological manifestations in an Egyptian patient with a novel frameshift mutation in the Glutaryl-CoA dehydrogenase gene. 38
27476540 2017
36
[Complex heterogeneity phenotypes and genotypes of glutaric aciduria type 1]. 38
27165598 2016
37
Intraventricular Baclofen for Treatment of Severe Dystonia Associated with Glutaryl-CoA Dehydrogenase Deficiency (GA1): Report of Two Cases. 38
30713921 2016
38
Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients. 38
25762492 2015
39
Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1. 38
24332224 2014
40
White matter injury induced by perinatal exposure to glutaric acid. 38
24297153 2014
41
Increased blood-brain barrier permeability and alterations in perivascular astrocytes and pericytes induced by intracisternal glutaric acid. 38
25077029 2014
42
Ammonium accumulation and cell death in a rat 3D brain cell model of glutaric aciduria type I. 38
23326493 2013
43
Heterozygosity for an in-frame deletion causes glutaryl-CoA dehydrogenase deficiency in a patient detected by newborn screening: investigation of the effect of the mutant allele. 38
22231382 2012
44
Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: focus on cerebral amino acid influx. 38
21820344 2011
45
Diagnosis, treatment and outcome of glutaric aciduria type I in Zhejiang Province, China. 38
21709643 2011
46
Teaching NeuroImages: Glutaric aciduria type 1 (glutaryl-CoA dehydrogenase deficiency). 38
21727264 2011
47
Neonatal astrocyte damage is sufficient to trigger progressive striatal degeneration in a rat model of glutaric acidemia-I. 38
21698251 2011
48
Glutaric aciduria type 1 in South Africa-high incidence of glutaryl-CoA dehydrogenase deficiency in black South Africans. 38
20732827 2010
49
Induction of S100B secretion in C6 astroglial cells by the major metabolites accumulating in glutaric acidemia type I. 38
20437086 2010
50
Spectrum of movement disorders associated with glutaric aciduria type 1: a study of 16 patients. 38
18823014 2008

Variations for Glutaric Acidemia I

ClinVar genetic disease variations for Glutaric Acidemia I:

6 (show top 50) (show all 179)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GCDH NM_000159.4(GCDH): c.382C> T (p.Arg128Ter) single nucleotide variant Pathogenic rs752334462 19:13004344-13004344 19:12893530-12893530
2 GCDH NM_000159.4(GCDH): c.1064G> A (p.Arg355His) single nucleotide variant Pathogenic rs748275416 19:13008224-13008224 19:12897410-12897410
3 GCDH NM_000159.4(GCDH): c.541G> C (p.Glu181Gln) single nucleotide variant Pathogenic rs745852738 19:13006841-13006841 19:12896027-12896027
4 GCDH NM_000159.4(GCDH): c.770G> A (p.Arg257Gln) single nucleotide variant Pathogenic rs751583656 19:13007153-13007153 19:12896339-12896339
5 GCDH NM_000159.4(GCDH): c.262C> A (p.Arg88Ser) single nucleotide variant Pathogenic rs142967670 19:13002779-13002779 19:12891965-12891965
6 GCDH NM_000159.4(GCDH): c.1054C> T (p.Gln352Ter) single nucleotide variant Pathogenic rs1555751089 19:13008214-13008214 19:12897400-12897400
7 GCDH NM_000159.4(GCDH): c.883T> C (p.Tyr295His) single nucleotide variant Pathogenic rs121434366 19:13007754-13007754 19:12896940-12896940
8 GCDH NM_000159.4(GCDH): c.1262C> T (p.Ala421Val) single nucleotide variant Pathogenic rs121434367 19:13010300-13010300 19:12899486-12899486
9 GCDH GCDH, IVS1, G-T, +5 single nucleotide variant Pathogenic
10 GCDH NM_000159.4(GCDH): c.1247C> T (p.Thr416Ile) single nucleotide variant Pathogenic rs121434368 19:13010285-13010285 19:12899471-12899471
11 GCDH NM_000159.4(GCDH): c.1240G> A (p.Glu414Lys) single nucleotide variant Pathogenic rs147611168 19:13008674-13008674 19:12897860-12897860
12 GCDH NM_000159.4(GCDH): c.1213A> G (p.Met405Val) single nucleotide variant Pathogenic rs141437721 19:13008647-13008647 19:12897833-12897833
13 GCDH NM_000159.4(GCDH): c.1244-2A> C single nucleotide variant Pathogenic rs199999619 19:13010280-13010280 19:12899466-12899466
14 GCDH NM_000159.4(GCDH): c.795_796insCTATGATCATC (p.Met266delinsLeuTer) insertion Pathogenic rs869025300 19:13007178-13007179 19:12896364-12896365
15 GCDH NM_000159.4(GCDH): c.1156C> T (p.Arg386Ter) single nucleotide variant Pathogenic rs752127949 19:13008590-13008590 19:12897776-12897776
16 GCDH NM_000159.4(GCDH): c.431A> C (p.Gln144Pro) single nucleotide variant Pathogenic rs878853154 19:13004393-13004393 19:12893579-12893579
17 GCDH NM_000159.4(GCDH): c.456C> G (p.Ile152Met) single nucleotide variant Pathogenic rs878853153 19:13004418-13004418 19:12893604-12893604
18 GCDH NM_000159.4(GCDH): c.731del (p.Gly244fs) deletion Pathogenic rs878853244 19:13007114-13007114 19:12896300-12896300
19 GCDH NM_000159.4(GCDH): c.751C> T (p.Gln251Ter) single nucleotide variant Pathogenic 19:13007134-13007134 19:12896320-12896320
20 GCDH NM_000159.4(GCDH): c.914C> T (p.Ser305Leu) single nucleotide variant Pathogenic 19:13007785-13007785 19:12896971-12896971
21 GCDH NM_000159.4(GCDH): c.296A> G (p.Glu99Gly) single nucleotide variant Pathogenic 19:13002954-13002954 19:12892140-12892140
22 GCDH NM_000159.4(GCDH): c.701G> C (p.Arg234Pro) single nucleotide variant Pathogenic 19:13007084-13007084 19:12896270-12896270
23 GCDH NM_000159.4(GCDH): c.1114A> G (p.Arg372Gly) single nucleotide variant Pathogenic 19:13008548-13008548 19:12897734-12897734
24 GCDH NM_000159.4(GCDH): c.1240G> T (p.Glu414Ter) single nucleotide variant Pathogenic 19:13008674-13008674 19:12897860-12897860
25 GCDH NM_000159.4(GCDH): c.553G> A (p.Gly185Arg) single nucleotide variant Pathogenic 19:13006853-13006853 19:12896039-12896039
26 GCDH NM_000159.4(GCDH): c.1298C> A (p.Ala433Glu) single nucleotide variant Pathogenic 19:13010336-13010336 19:12899522-12899522
27 GCDH NM_000159.4(GCDH): c.572T> C (p.Met191Thr) single nucleotide variant Pathogenic/Likely pathogenic rs149120354 19:13006872-13006872 19:12896058-12896058
28 GCDH NM_000159.4(GCDH): c.1205G> A (p.Arg402Gln) single nucleotide variant Pathogenic/Likely pathogenic rs786204626 19:13008639-13008639 19:12897825-12897825
29 GCDH NM_000159.4(GCDH): c.262C> T (p.Arg88Cys) single nucleotide variant Pathogenic/Likely pathogenic rs142967670 19:13002779-13002779 19:12891965-12891965
30 GCDH NM_000159.4(GCDH): c.271+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs786204639 19:13002789-13002789 19:12891975-12891975
31 GCDH NM_000159.4(GCDH): c.383G> A (p.Arg128Gln) single nucleotide variant Pathogenic/Likely pathogenic rs755586631 19:13004345-13004345 19:12893531-12893531
32 GCDH NM_000159.4(GCDH): c.482G> A (p.Arg161Gln) single nucleotide variant Pathogenic/Likely pathogenic rs777201305 19:13004444-13004444 19:12893630-12893630
33 GCDH NM_000159.4(GCDH): c.769C> T (p.Arg257Trp) single nucleotide variant Pathogenic/Likely pathogenic rs766518430 19:13007152-13007152 19:12896338-12896338
34 GCDH NM_000159.4(GCDH): c.1204C> T (p.Arg402Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121434369 19:13008638-13008638 19:12897824-12897824
35 GCDH NM_000159.4(GCDH): c.1093G> A (p.Glu365Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121434370 19:13008527-13008527 19:12897713-12897713
36 GCDH NM_000159.4(GCDH): c.636-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs398123195 19:13007018-13007018 19:12896204-12896204
37 GCDH NM_000159.4(GCDH): c.1198G> A (p.Val400Met) single nucleotide variant Pathogenic/Likely pathogenic rs121434372 19:13008632-13008632 19:12897818-12897818
38 GCDH NM_000159.4(GCDH): c.680G> C (p.Arg227Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121434373 19:13007063-13007063 19:12896249-12896249
39 GCDH NM_000159.4(GCDH): c.532G> A (p.Gly178Arg) single nucleotide variant Pathogenic/Likely pathogenic rs749452002 19:13006832-13006832 19:12896018-12896018
40 GCDH NM_000159.4(GCDH): c.892G> A (p.Ala298Thr) single nucleotide variant Pathogenic/Likely pathogenic rs761765983 19:13007763-13007763 19:12896949-12896949
41 GCDH NM_000159.4(GCDH): c.1063C> T (p.Arg355Cys) single nucleotide variant Pathogenic/Likely pathogenic rs781477694 19:13008223-13008223 19:12897409-12897409
42 GCDH NM_000159.4(GCDH): c.226C> T (p.Gln76Ter) single nucleotide variant Pathogenic/Likely pathogenic rs898043081 19:13002743-13002743 19:12891929-12891929
43 GCDH NM_000159.4(GCDH): c.848del (p.Leu283fs) deletion Pathogenic/Likely pathogenic rs761491320 19:13007231-13007231 19:12896417-12896417
44 GCDH NM_000159.4(GCDH): c.1173del (p.Asn392fs) deletion Pathogenic/Likely pathogenic rs754002357 19:13008607-13008607 19:12897793-12897793
45 GCDH NM_000159.4(GCDH): c.764C> T (p.Ser255Leu) single nucleotide variant Pathogenic/Likely pathogenic rs758503371 19:13007147-13007147 19:12896333-12896333
46 GCDH NM_000159.4(GCDH): c.395G> A (p.Arg132Gln) single nucleotide variant Pathogenic/Likely pathogenic rs200639270 19:13004357-13004357 19:12893543-12893543
47 GCDH NM_000159.4(GCDH): c.937C> T (p.Arg313Trp) single nucleotide variant Pathogenic/Likely pathogenic rs779315456 19:13007808-13007808 19:12896994-12896994
48 GCDH NM_000159.4(GCDH): c.853-2A> G single nucleotide variant Likely pathogenic rs1057517410 19:13007722-13007722 19:12896908-12896908
49 GCDH NM_000159.4(GCDH): c.873del (p.Asn291fs) deletion Likely pathogenic rs1057517407 19:13007744-13007744 19:12896930-12896930
50 GCDH NM_000159.4(GCDH): c.1169G> C (p.Gly390Ala) single nucleotide variant Likely pathogenic rs778153326 19:13008603-13008603 19:12897789-12897789

UniProtKB/Swiss-Prot genetic disease variations for Glutaric Acidemia I:

74 (show top 50) (show all 58)
# Symbol AA change Variation ID SNP ID
1 GCDH p.Arg88Cys VAR_000366 rs142967670
2 GCDH p.Arg94Leu VAR_000367 rs566417795
3 GCDH p.Gly101Arg VAR_000368 rs127316483
4 GCDH p.Cys115Tyr VAR_000369 rs776758971
5 GCDH p.Ala122Val VAR_000370 rs766325846
6 GCDH p.Arg128Gly VAR_000371
7 GCDH p.Arg138Gly VAR_000372 rs897036690
8 GCDH p.Ser139Leu VAR_000373 rs139851890
9 GCDH p.Val148Ile VAR_000374 rs100361128
10 GCDH p.Arg161Gln VAR_000375 rs777201305
11 GCDH p.Gly178Arg VAR_000376 rs749452002
12 GCDH p.Leu179Arg VAR_000377 rs774526353
13 GCDH p.Met191Thr VAR_000378 rs149120354
14 GCDH p.Ala195Thr VAR_000379
15 GCDH p.Arg227Pro VAR_000380 rs121434373
16 GCDH p.Phe236Leu VAR_000381 rs747920711
17 GCDH p.Arg257Gln VAR_000382 rs751583656
18 GCDH p.Arg257Trp VAR_000383 rs766518430
19 GCDH p.Met266Val VAR_000384 rs745357523
20 GCDH p.Pro278Ser VAR_000385 rs751742575
21 GCDH p.Leu283Pro VAR_000386
22 GCDH p.Ala293Thr VAR_000387 rs121434371
23 GCDH p.Arg294Trp VAR_000388
24 GCDH p.Tyr295His VAR_000389 rs121434366
25 GCDH p.Ser305Leu VAR_000392 rs126058018
26 GCDH p.Cys308Ser VAR_000393 rs120536899
27 GCDH p.Leu309Trp VAR_000394 rs124771289
28 GCDH p.Arg313Trp VAR_000395 rs779315456
29 GCDH p.Gln333Glu VAR_000396 rs794726972
30 GCDH p.Ala349Thr VAR_000397 rs125729263
31 GCDH p.Gly354Arg VAR_000398
32 GCDH p.Gly354Ser VAR_000399 rs768925619
33 GCDH p.Arg355Cys VAR_000400 rs781477694
34 GCDH p.Arg355His VAR_000401 rs748275416
35 GCDH p.Glu365Lys VAR_000402 rs121434370
36 GCDH p.Cys375Arg VAR_000403 rs134897476
37 GCDH p.Ala382Thr VAR_000404 rs567564095
38 GCDH p.Arg383Cys VAR_000405 rs150938052
39 GCDH p.Arg383His VAR_000406 rs764608975
40 GCDH p.Arg386Gln VAR_000407 rs398123190
41 GCDH p.Gly390Arg VAR_000408 rs372983141
42 GCDH p.Gly390Ala VAR_000409 rs778153326
43 GCDH p.Asn392Asp VAR_000410 rs128226679
44 GCDH p.Val400Met VAR_000411 rs121434372
45 GCDH p.Arg402Trp VAR_000412 rs121434369
46 GCDH p.Arg402Gln VAR_000413 rs786204626
47 GCDH p.His403Arg VAR_000414
48 GCDH p.Asn406Lys VAR_000415
49 GCDH p.Leu407Pro VAR_000416 rs155575137
50 GCDH p.Glu414Lys VAR_000417 rs147611168

Expression for Glutaric Acidemia I

Search GEO for disease gene expression data for Glutaric Acidemia I.

Pathways for Glutaric Acidemia I

GO Terms for Glutaric Acidemia I

Sources for Glutaric Acidemia I

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