GA1
MCID: GLT035
MIFTS: 46

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 58 26
Glutaryl-Coa Dehydrogenase Deficiency 58 77 54 26 60 76
Glutaric Aciduria, Type 1 30 6 74
Glutaric Acidemia Type I 54 26 76
Glutaric Acidemia Type 1 54 26 60
Ga1 58 60 76
Glutaricaciduria, Type I 58 13
Glutaric Aciduria I 58 26
Glutaric Aciduria 1 54 76
Ga I 58 26
Glutaryl-Coenzyme a Dehydrogenase Deficiency 60
Glutaryl-Coenzyme a Dehydrogenase 13
Glutaric Aciduria, Type I 77
Brain Diseases, Metabolic 45
Glutaric Aciduria Type 1 60
Glutaricaciduria, Type 1 41
Glutaric Acidemia 1 54
Glutaricaciduria I 77
Gcdhd 60
Ga 1 54
Ga-I 76

Characteristics:

Orphanet epidemiological data:

60
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:

58
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:

33
glutaric acidemia i:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Glutaric Acidemia I

NIH Rare Diseases : 54 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 Proguanil and Artemether have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and heart, and related phenotypes are dyskinesia and vomiting

Genetics Home Reference : 26 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.

OMIM : 58 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 : 76 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 : 77 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

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:

60 33 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dyskinesia 60 33 hallmark (90%) Very frequent (99-80%) HP:0100660
2 vomiting 60 33 hallmark (90%) Very frequent (99-80%) HP:0002013
3 dystonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001332
4 large fontanelles 60 33 hallmark (90%) Very frequent (99-80%) HP:0000239
5 metabolic acidosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001942
6 encephalopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0001298
7 macrocephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000256
8 joint dislocation 60 33 frequent (33%) Frequent (79-30%) HP:0001373
9 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
10 spasticity 60 33 frequent (33%) Frequent (79-30%) HP:0001257
11 abnormal facial shape 60 33 frequent (33%) Frequent (79-30%) HP:0001999
12 feeding difficulties in infancy 60 33 frequent (33%) Frequent (79-30%) HP:0008872
13 prominent forehead 60 33 frequent (33%) Frequent (79-30%) HP:0011220
14 irritability 60 33 frequent (33%) Frequent (79-30%) HP:0000737
15 abnormality of extrapyramidal motor function 60 33 frequent (33%) Frequent (79-30%) HP:0002071
16 choreoathetosis 60 33 frequent (33%) Frequent (79-30%) HP:0001266
17 abnormality of eye movement 60 33 occasional (7.5%) Occasional (29-5%) HP:0000496
18 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
19 gait disturbance 60 33 occasional (7.5%) Occasional (29-5%) HP:0001288
20 neurological speech impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0002167
21 developmental regression 60 33 occasional (7.5%) Occasional (29-5%) HP:0002376
22 cognitive impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0100543
23 migraine 60 33 occasional (7.5%) Occasional (29-5%) HP:0002076
24 cerebral ischemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002637
25 malignant hyperthermia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002047
26 vertigo 60 33 occasional (7.5%) Occasional (29-5%) HP:0002321
27 coma 60 33 occasional (7.5%) Occasional (29-5%) HP:0001259
28 intracranial hemorrhage 60 33 occasional (7.5%) Occasional (29-5%) HP:0002170
29 hemiplegia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002301
30 abnormal retinal vascular morphology 33 occasional (7.5%) HP:0008046
31 failure to thrive 33 HP:0001508
32 hepatomegaly 33 HP:0002240
33 hypoglycemia 33 HP:0001943
34 abnormality of movement 60 Frequent (79-30%)
35 abnormality of the retinal vasculature 60 Occasional (29-5%)
36 rigidity 33 HP:0002063
37 generalized hypotonia 33 HP:0001290
38 spastic diplegia 33 HP:0001264
39 opisthotonus 33 HP:0002179
40 dilation of lateral ventricles 33 HP:0006956
41 ketonuria 33 HP:0002919
42 infantile encephalopathy 33 HP:0007105
43 symmetrical progressive peripheral demyelination 33 HP:0006873
44 delayed myelination 33 HP:0012448
45 glutaric acidemia 33 HP:0003530
46 glutaric aciduria 33 HP:0003150
47 hyperketonemia 33 HP:0410175

Symptoms via clinical synopsis from OMIM:

58
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 44)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Proguanil Approved Phase 1 500-92-5 4923
2
Artemether Approved Phase 1 71963-77-4 68911 119380
3
Atovaquone Approved Phase 1 95233-18-4 74989
4
Lumefantrine Approved Phase 1 82186-77-4 6437380
5
Lidocaine Approved, Vet_approved Phase 1 137-58-6 3676
6
Racepinephrine Approved Phase 1 329-65-7 838
7
Epinephrine Approved, Vet_approved Phase 1 51-43-4 5816
8 Vaccines Phase 1
9 Antimalarials Phase 1
10 Artemether, Lumefantrine Drug Combination Phase 1
11 Antiprotozoal Agents Phase 1
12 Antiparasitic Agents Phase 1
13 Anti-Infective Agents Phase 1
14 Immunologic Factors Phase 1
15 Autonomic Agents Phase 1
16 Pharmaceutical Solutions Phase 1
17 Sympathomimetics Phase 1
18 Adrenergic alpha-Agonists Phase 1
19 Adrenergic Agents Phase 1
20 Central Nervous System Depressants Phase 1
21 Adrenergic beta-Agonists Phase 1
22 Peripheral Nervous System Agents Phase 1
23 Epinephryl borate Phase 1
24 Bronchodilator Agents Phase 1
25 Respiratory System Agents Phase 1
26 Vasoconstrictor Agents Phase 1
27 Anesthetics, Local Phase 1
28 Adrenergic Agonists Phase 1
29 Neurotransmitter Agents Phase 1
30 Anti-Asthmatic Agents Phase 1
31 Mydriatics Phase 1
32 Sodium Channel Blockers Phase 1
33 Diuretics, Potassium Sparing Phase 1
34 Anesthetics Phase 1
35 Anti-Arrhythmia Agents Phase 1
36
gastric inhibitory polypeptide Approved, Investigational Not Applicable 100040-31-1
37
Methimazole Approved 60-56-0 1349907
38
Ganciclovir Approved, Investigational 82410-32-0 3454
39 Hormones Not Applicable
40 Incretins Not Applicable
41 Gastrointestinal Agents Not Applicable
42 Hormones, Hormone Substitutes, and Hormone Antagonists Not Applicable
43 Hormone Antagonists Not Applicable
44 Ganciclovir triphosphate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Safety and Protective Efficacy of Genetically Attenuated PfSPZ-GA1 Vaccine in Healthy Dutch Volunteers Completed NCT03163121 Phase 1
2 Dental Anesthesia in Pregnant Women With Rheumatic Heart Disease Completed NCT00482573 Phase 1
3 GIP Receptor Antagonist Studies in Humans Completed NCT02747472 Not Applicable GIP-A;GIP(1-42)
4 Characteristics of Islet β-cell Functions in Chinese Patients With Graves' Disease Completed NCT02376088 Methimazole
5 Neurodevelopmental Outcome of Early Dietary Lysine Restriction in Pyridoxine Dependent Epilepsy Patients Withdrawn NCT01795170 Pyridoxine

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 30 GCDH

Anatomical Context for Glutaric Acidemia I

MalaCards organs/tissues related to Glutaric Acidemia I:

42
Brain, Eye, Heart, Testes

Publications for Glutaric Acidemia I

Articles related to Glutaric Acidemia I:

(show top 50) (show all 58)
# Title Authors Year
1
Intraventricular Baclofen for Treatment of Severe Dystonia Associated with Glutaryl-CoA Dehydrogenase Deficiency (GA1): Report of Two Cases. ( 30713921 )
2016
2
Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia. ( 21912879 )
2012
3
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. ( 22231382 )
2012
4
Neonatal astrocyte damage is sufficient to trigger progressive striatal degeneration in a rat model of glutaric acidemia-I. ( 21698251 )
2011
5
Teaching NeuroImages: Glutaric aciduria type 1 (glutaryl-CoA dehydrogenase deficiency). ( 21727264 )
2011
6
Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: focus on cerebral amino acid influx. ( 21820344 )
2011
7
Glutaric aciduria type 1 in South Africa-high incidence of glutaryl-CoA dehydrogenase deficiency in black South Africans. ( 20732827 )
2010
8
Astrocytic proliferation and mitochondrial dysfunction induced by accumulated glutaric acidemia I (GAI) metabolites: possible implications for GAI pathogenesis. ( 18930146 )
2008
9
Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I). ( 17203377 )
2007
10
Glutaryl-CoA dehydrogenase deficiency. ( 17211155 )
2007
11
Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency. ( 17478444 )
2007
12
Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany. ( 17622945 )
2007
13
Biochemistry and bioenergetics of glutaryl-CoA dehydrogenase deficiency. ( 17879145 )
2007
14
Classic and late-onset neurological disease in two siblings with glutaryl-CoA dehydrogenase deficiency. ( 17957492 )
2007
15
Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency. ( 16573641 )
2006
16
Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency. ( 16641220 )
2006
17
Riboflavin-responsive glutaryl CoA dehydrogenase deficiency. ( 16377226 )
2006
18
Glutaric acid and its metabolites cause apoptosis in immature oligodendrocytes: a novel mechanism of white matter degeneration in glutaryl-CoA dehydrogenase deficiency. ( 15774829 )
2005
19
Glutaconyl-CoA is the main toxic agent in glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I). ( 15922108 )
2005
20
Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency. ( 15985591 )
2005
21
Glutaryl-CoA dehydrogenase deficiency and newborn screening: retrospective analysis of a low excretor provides further evidence that some cases may be missed. ( 16183314 )
2005
22
Pathomechanisms of neurodegeneration in glutaryl-CoA dehydrogenase deficiency. ( 14705106 )
2004
23
Development of pathogenic concepts in glutaryl-CoA dehydrogenase deficiency: the challenge. ( 15505384 )
2004
24
Excitotoxicity and bioenergetics in glutaryl-CoA dehydrogenase deficiency. ( 15505385 )
2004
25
Animal models for glutaryl-CoA dehydrogenase deficiency. ( 15505386 )
2004
26
Modulation of glutamatergic and GABAergic neurotransmission in glutaryl-CoA dehydrogenase deficiency. ( 15505388 )
2004
27
Challenges for basic research in glutaryl-CoA dehydrogenase deficiency. ( 15505391 )
2004
28
Neonatal screening for glutaryl-CoA dehydrogenase deficiency. ( 15505392 )
2004
29
Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency. ( 15505393 )
2004
30
Neuroradiological findings in glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency). ( 15505394 )
2004
31
Nuclear magnetic resonance spectroscopy in glutaryl-CoA dehydrogenase deficiency. ( 15505395 )
2004
32
Maintenance treatment of glutaryl-CoA dehydrogenase deficiency. ( 15505396 )
2004
33
Emergency treatment in glutaryl-CoA dehydrogenase deficiency. ( 15505397 )
2004
34
Reduction of lysine intake while avoiding malnutrition--major goals and major problems in dietary treatment of glutaryl-CoA dehydrogenase deficiency. ( 15505398 )
2004
35
Management of movement disorders in glutaryl-CoA dehydrogenase deficiency: anticholinergic drugs and botulinum toxin as additional therapeutic options. ( 15505399 )
2004
36
Looking forward--an evidence-based approach to glutaryl-CoA dehydrogenase deficiency. ( 15505401 )
2004
37
Glutaryl-CoA dehydrogenase deficiency: region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamen. ( 14598231 )
2003
38
3-Hydroxyglutarate excretion is increased in ketotic patients: implications for glutaryl-CoA dehydrogenase deficiency testing. ( 12118531 )
2002
39
Acute encephalopathy despite early therapy in a patient with homozygosity for E365K in the glutaryl-coenzyme A dehydrogenase gene. ( 11174631 )
2001
40
Evidence of a single origin for the most frequent mutation (R402W) causing glutaryl-CoA dehydrogenase deficiency: identification of 3 novel polymorphisms and haplotype definition. ( 10649503 )
2000
41
Maturation-dependent neurotoxicity of 3-hydroxyglutaric and glutaric acids in vitro: a new pathophysiologic approach to glutaryl-CoA dehydrogenase deficiency. ( 10759157 )
2000
42
Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct. ( 10960496 )
2000
43
Mutation analysis in glutaric aciduria type I. ( 10699052 )
2000
44
Glutaryl-CoA dehydrogenase deficiency presenting as 3-hydroxyglutaric aciduria. ( 10066389 )
1999
45
Glutaric aciduria type 1 (glutaryl-CoA-dehydrogenase deficiency): advances and unanswered questions. Report from an international meeting. ( 9392391 )
1997
46
Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency. ( 8837070 )
1996
47
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. ( 8900227 )
1996
48
Glutaric aciduria type I in the Arab and Jewish communities in Israel. ( 8900228 )
1996
49
Early signs and course of disease of glutaryl-CoA dehydrogenase deficiency. ( 7564239 )
1995
50
Variable clinical and biochemical presentation of seven Spanish cases with glutaryl-CoA-dehydrogenase deficiency. ( 8552212 )
1995

Variations for Glutaric Acidemia I

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

76 (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
50 GCDH p.Glu414Lys VAR_000417 rs147611168

ClinVar genetic disease variations for Glutaric Acidemia I:

6 (show top 50) (show all 323)
# Gene Variation Type Significance SNP ID Assembly Location
1 GCDH NM_000159.3(GCDH): c.1173G> T (p.Gly391=) single nucleotide variant Benign rs1060218 GRCh37 Chromosome 19, 13008607: 13008607
2 GCDH NM_000159.3(GCDH): c.1173G> T (p.Gly391=) single nucleotide variant Benign rs1060218 GRCh38 Chromosome 19, 12897793: 12897793
3 GCDH NM_000159.3(GCDH): c.428T> C (p.Val143Ala) single nucleotide variant Uncertain significance rs141456457 GRCh37 Chromosome 19, 13004390: 13004390
4 GCDH NM_000159.3(GCDH): c.428T> C (p.Val143Ala) single nucleotide variant Uncertain significance rs141456457 GRCh38 Chromosome 19, 12893576: 12893576
5 GCDH NM_000159.3(GCDH): c.542A> G (p.Glu181Gly) single nucleotide variant Pathogenic rs398123194 GRCh37 Chromosome 19, 13006842: 13006842
6 GCDH NM_000159.3(GCDH): c.542A> G (p.Glu181Gly) single nucleotide variant Pathogenic rs398123194 GRCh38 Chromosome 19, 12896028: 12896028
7 GCDH NM_000159.3(GCDH): c.636-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs398123195 GRCh37 Chromosome 19, 13007018: 13007018
8 GCDH NM_000159.3(GCDH): c.636-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs398123195 GRCh38 Chromosome 19, 12896204: 12896204
9 GCDH NM_000159.3(GCDH): c.1240G> A (p.Glu414Lys) single nucleotide variant Pathogenic rs147611168 GRCh37 Chromosome 19, 13008674: 13008674
10 GCDH NM_000159.3(GCDH): c.1240G> A (p.Glu414Lys) single nucleotide variant Pathogenic rs147611168 GRCh38 Chromosome 19, 12897860: 12897860
11 GCDH NM_000159.3(GCDH): c.262C> T (p.Arg88Cys) single nucleotide variant Pathogenic/Likely pathogenic rs142967670 GRCh38 Chromosome 19, 12891965: 12891965
12 GCDH NM_000159.3(GCDH): c.262C> T (p.Arg88Cys) single nucleotide variant Pathogenic/Likely pathogenic rs142967670 GRCh37 Chromosome 19, 13002779: 13002779
13 GCDH NM_000159.3(GCDH): c.271+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs786204639 GRCh38 Chromosome 19, 12891975: 12891975
14 GCDH NM_000159.3(GCDH): c.271+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs786204639 GRCh37 Chromosome 19, 13002789: 13002789
15 GCDH NM_000159.3(GCDH): c.383G> A (p.Arg128Gln) single nucleotide variant Likely pathogenic rs755586631 GRCh37 Chromosome 19, 13004345: 13004345
16 GCDH NM_000159.3(GCDH): c.383G> A (p.Arg128Gln) single nucleotide variant Likely pathogenic rs755586631 GRCh38 Chromosome 19, 12893531: 12893531
17 GCDH NM_000159.4(GCDH): c.416C> T (p.Ser139Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs139851890 GRCh37 Chromosome 19, 13004378: 13004378
18 GCDH NM_000159.4(GCDH): c.416C> T (p.Ser139Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs139851890 GRCh38 Chromosome 19, 12893564: 12893564
19 GCDH NM_000159.3(GCDH): c.482G> A (p.Arg161Gln) single nucleotide variant Pathogenic/Likely pathogenic rs777201305 GRCh38 Chromosome 19, 12893630: 12893630
20 GCDH NM_000159.3(GCDH): c.482G> A (p.Arg161Gln) single nucleotide variant Pathogenic/Likely pathogenic rs777201305 GRCh37 Chromosome 19, 13004444: 13004444
21 GCDH NM_000159.3(GCDH): c.533G> A (p.Gly178Glu) single nucleotide variant Likely pathogenic rs786204627 GRCh38 Chromosome 19, 12896019: 12896019
22 GCDH NM_000159.3(GCDH): c.533G> A (p.Gly178Glu) single nucleotide variant Likely pathogenic rs786204627 GRCh37 Chromosome 19, 13006833: 13006833
23 GCDH NM_000159.3(GCDH): c.769C> T (p.Arg257Trp) single nucleotide variant Pathogenic/Likely pathogenic rs766518430 GRCh38 Chromosome 19, 12896338: 12896338
24 GCDH NM_000159.3(GCDH): c.769C> T (p.Arg257Trp) single nucleotide variant Pathogenic/Likely pathogenic rs766518430 GRCh37 Chromosome 19, 13007152: 13007152
25 GCDH NM_000159.3(GCDH): c.1060G> A (p.Gly354Ser) single nucleotide variant Likely pathogenic rs768925619 GRCh38 Chromosome 19, 12897406: 12897406
26 GCDH NM_000159.3(GCDH): c.1060G> A (p.Gly354Ser) single nucleotide variant Likely pathogenic rs768925619 GRCh37 Chromosome 19, 13008220: 13008220
27 GCDH NM_000159.4(GCDH): c.1147C> T (p.Arg383Cys) single nucleotide variant Likely pathogenic rs150938052 GRCh38 Chromosome 19, 12897767: 12897767
28 GCDH NM_000159.4(GCDH): c.1147C> T (p.Arg383Cys) single nucleotide variant Likely pathogenic rs150938052 GRCh37 Chromosome 19, 13008581: 13008581
29 GCDH NM_000159.3(GCDH): c.1205G> A (p.Arg402Gln) single nucleotide variant Likely pathogenic rs786204626 GRCh38 Chromosome 19, 12897825: 12897825
30 GCDH NM_000159.3(GCDH): c.1205G> A (p.Arg402Gln) single nucleotide variant Likely pathogenic rs786204626 GRCh37 Chromosome 19, 13008639: 13008639
31 GCDH NM_000159.3(GCDH): c.1239C> A (p.Tyr413Ter) single nucleotide variant Likely pathogenic rs776082304 GRCh37 Chromosome 19, 13008673: 13008673
32 GCDH NM_000159.3(GCDH): c.1239C> A (p.Tyr413Ter) single nucleotide variant Likely pathogenic rs776082304 GRCh38 Chromosome 19, 12897859: 12897859
33 GCDH NM_000159.3(GCDH): c.680G> C (p.Arg227Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121434373 GRCh38 Chromosome 19, 12896249: 12896249
34 GCDH NM_000159.3(GCDH): c.680G> C (p.Arg227Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121434373 GRCh37 Chromosome 19, 13007063: 13007063
35 GCDH NM_000159.3(GCDH): c.1198G> A (p.Val400Met) single nucleotide variant Pathogenic/Likely pathogenic rs121434372 GRCh38 Chromosome 19, 12897818: 12897818
36 GCDH NM_000159.3(GCDH): c.1198G> A (p.Val400Met) single nucleotide variant Pathogenic/Likely pathogenic rs121434372 GRCh37 Chromosome 19, 13008632: 13008632
37 GCDH GCDH, IVS1, G-T, +5 single nucleotide variant Pathogenic
38 GCDH NM_000159.3(GCDH): c.1093G> A (p.Glu365Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121434370 GRCh38 Chromosome 19, 12897713: 12897713
39 GCDH NM_000159.3(GCDH): c.1093G> A (p.Glu365Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121434370 GRCh37 Chromosome 19, 13008527: 13008527
40 GCDH NM_000159.3(GCDH): c.1204C> T (p.Arg402Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121434369 GRCh38 Chromosome 19, 12897824: 12897824
41 GCDH NM_000159.3(GCDH): c.1204C> T (p.Arg402Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121434369 GRCh37 Chromosome 19, 13008638: 13008638
42 GCDH NM_000159.3(GCDH): c.1247C> T (p.Thr416Ile) single nucleotide variant Pathogenic rs121434368 GRCh38 Chromosome 19, 12899471: 12899471
43 GCDH NM_000159.3(GCDH): c.1247C> T (p.Thr416Ile) single nucleotide variant Pathogenic rs121434368 GRCh37 Chromosome 19, 13010285: 13010285
44 GCDH NM_000159.3(GCDH): c.877G> A (p.Ala293Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs121434371 GRCh38 Chromosome 19, 12896934: 12896934
45 GCDH NM_000159.3(GCDH): c.877G> A (p.Ala293Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs121434371 GRCh37 Chromosome 19, 13007748: 13007748
46 GCDH NM_000159.3(GCDH): c.1262C> T (p.Ala421Val) single nucleotide variant Pathogenic rs121434367 GRCh38 Chromosome 19, 12899486: 12899486
47 GCDH NM_000159.3(GCDH): c.1262C> T (p.Ala421Val) single nucleotide variant Pathogenic rs121434367 GRCh37 Chromosome 19, 13010300: 13010300
48 GCDH NM_000159.3(GCDH): c.883T> C (p.Tyr295His) single nucleotide variant Pathogenic rs121434366 GRCh38 Chromosome 19, 12896940: 12896940
49 GCDH NM_000159.3(GCDH): c.883T> C (p.Tyr295His) single nucleotide variant Pathogenic rs121434366 GRCh37 Chromosome 19, 13007754: 13007754
50 GCDH NM_000159.3(GCDH): c.675G> A (p.Trp225Ter) single nucleotide variant Likely pathogenic rs786205862 GRCh37 Chromosome 19, 13007058: 13007058

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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