MCID: GLT035
MIFTS: 45

Glutaric Acidemia I

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

Aliases & Classifications for Glutaric Acidemia I

MalaCards integrated aliases for Glutaric Acidemia I:

Name: Glutaric Acidemia I 57 25
Glutaryl-Coa Dehydrogenase Deficiency 57 76 53 25 59 75
Glutaric Aciduria, Type 1 29 6 73
Glutaric Acidemia Type I 53 25 75
Glutaric Acidemia Type 1 53 25 59
Ga1 57 59 75
Glutaricaciduria, Type I 57 13
Glutaric Aciduria I 57 25
Glutaric Aciduria 1 53 75
Ga I 57 25
Glutaryl-Coenzyme a Dehydrogenase Deficiency 59
Glutaryl-Coenzyme a Dehydrogenase 13
Brain Diseases, Metabolic 44
Glutaric Aciduria Type 1 59
Glutaricaciduria, Type 1 40
Glutaric Acidemia 1 53
Glutaricaciduria I 76
Gcdhd 59
Ga 1 53
Ga-I 75

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:



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 type i, and has symptoms including muscle rigidity and opisthotonus. An important gene associated with Glutaric Acidemia I is GCDH (Glutaryl-CoA Dehydrogenase). The drugs Epinephrine and Lidocaine have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and heart, and related phenotypes are large fontanelles and macrocephaly

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.

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 : 75 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 : 76 Organic acidemia, also called organic aciduria, is a term used to classify a group of metabolic... 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 all 13)
# Related Disease Score Top Affiliating Genes
1 striatonigral degeneration, infantile 11.4
2 type i 11.1
3 branched-chain keto acid dehydrogenase kinase deficiency 11.0
4 multiple acyl-coa dehydrogenase deficiency 10.9
5 arachnoiditis 10.2
6 arachnoid cysts 10.2
7 dystonia 10.2
8 d-2-hydroxyglutaric aciduria 1 10.0
9 hydrocephalus 10.0
10 epilepsy 10.0
11 cerebritis 10.0
12 encephalopathy 10.0
13 shaken baby syndrome 10.0

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



Diseases related to Glutaric Acidemia I

Symptoms & Phenotypes for Glutaric Acidemia I

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

Human phenotypes related to Glutaric Acidemia I:

59 32 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 large fontanelles 59 32 hallmark (90%) Very frequent (99-80%) HP:0000239
2 macrocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000256
3 abnormality of eye movement 59 32 occasional (7.5%) Occasional (29-5%) HP:0000496
4 irritability 59 32 frequent (33%) Frequent (79-30%) HP:0000737
5 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
6 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
7 spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0001257
8 coma 59 32 occasional (7.5%) Occasional (29-5%) HP:0001259
9 choreoathetosis 59 32 frequent (33%) Frequent (79-30%) HP:0001266
10 gait disturbance 59 32 occasional (7.5%) Occasional (29-5%) HP:0001288
11 encephalopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001298
12 dystonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001332
13 joint dislocation 59 32 frequent (33%) Frequent (79-30%) HP:0001373
14 metabolic acidosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001942
15 abnormal facial shape 59 32 frequent (33%) Frequent (79-30%) HP:0001999
16 vomiting 59 32 hallmark (90%) Very frequent (99-80%) HP:0002013
17 malignant hyperthermia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002047
18 abnormality of extrapyramidal motor function 59 32 frequent (33%) Frequent (79-30%) HP:0002071
19 migraine 59 32 occasional (7.5%) Occasional (29-5%) HP:0002076
20 neurological speech impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0002167
21 intracranial hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0002170
22 hemiplegia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002301
23 vertigo 59 32 occasional (7.5%) Occasional (29-5%) HP:0002321
24 developmental regression 59 32 occasional (7.5%) Occasional (29-5%) HP:0002376
25 cerebral ischemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002637
26 abnormality of the retinal vasculature 59 32 occasional (7.5%) Occasional (29-5%) HP:0008046
27 feeding difficulties in infancy 59 32 frequent (33%) Frequent (79-30%) HP:0008872
28 prominent forehead 59 32 frequent (33%) Frequent (79-30%) HP:0011220
29 cognitive impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0100543
30 dyskinesia 59 32 hallmark (90%) Very frequent (99-80%) HP:0100660
31 abnormality of movement 59 Frequent (79-30%)
32 spastic diplegia 32 HP:0001264
33 generalized hypotonia 32 HP:0001290
34 failure to thrive 32 HP:0001508
35 hypoglycemia 32 HP:0001943
36 ketosis 32 HP:0001946
37 rigidity 32 HP:0002063
38 opisthotonus 32 HP:0002179
39 hepatomegaly 32 HP:0002240
40 ketonuria 32 HP:0002919
41 glutaric aciduria 32 HP:0003150
42 glutaric acidemia 32 HP:0003530
43 symmetrical progressive peripheral demyelination 32 HP:0006873
44 dilation of lateral ventricles 32 HP:0006956
45 infantile encephalopathy 32 HP:0007105
46 delayed myelination 32 HP:0012448

UMLS symptoms related to Glutaric Acidemia I:


muscle rigidity, opisthotonus

Drugs & Therapeutics for Glutaric Acidemia I

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

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Dental Anesthesia in Pregnant Women With Rheumatic Heart Disease Completed NCT00482573 Phase 1
2 Safety and Protective Efficacy of Genetically Attenuated PfSPZ-GA1 Vaccine in Healthy Dutch Volunteers Recruiting NCT03163121 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 29 GCDH

Anatomical Context for Glutaric Acidemia I

MalaCards organs/tissues related to Glutaric Acidemia I:

41
Brain, Eye, Heart, Cortex

Publications for Glutaric Acidemia I

Articles related to Glutaric Acidemia I:

(show all 25)
# Title Authors Year
1
Disturbance of the glutamatergic system by glutaric acid in striatum and cerebral cortex of glutaryl-CoA dehydrogenase-deficient knockout mice: Possible implications for the neuropathology of glutaric acidemia type I. ( 25241940 )
2014
2
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
3
Neonatal astrocyte damage is sufficient to trigger progressive striatal degeneration in a rat model of glutaric acidemia-I. ( 21698251 )
2011
4
Glutaric aciduria type 1 in South Africa-high incidence of glutaryl-CoA dehydrogenase deficiency in black South Africans. ( 20732827 )
2010
5
Astrocytic proliferation and mitochondrial dysfunction induced by accumulated glutaric acidemia I (GAI) metabolites: possible implications for GAI pathogenesis. ( 18930146 )
2008
6
Classic and late-onset neurological disease in two siblings with glutaryl-CoA dehydrogenase deficiency. ( 17957492 )
2007
7
Biochemistry and bioenergetics of glutaryl-CoA dehydrogenase deficiency. ( 17879145 )
2007
8
Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I). ( 17203377 )
2007
9
Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency. ( 17478444 )
2007
10
Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany. ( 17622945 )
2007
11
Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency. ( 16641220 )
2006
12
Riboflavin-responsive glutaryl CoA dehydrogenase deficiency. ( 16377226 )
2006
13
Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency. ( 15985591 )
2005
14
Nuclear magnetic resonance spectroscopy in glutaryl-CoA dehydrogenase deficiency. ( 15505395 )
2004
15
Neonatal screening for glutaryl-CoA dehydrogenase deficiency. ( 15505392 )
2004
16
Animal models for glutaryl-CoA dehydrogenase deficiency. ( 15505386 )
2004
17
Modulation of glutamatergic and GABAergic neurotransmission in glutaryl-CoA dehydrogenase deficiency. ( 15505388 )
2004
18
Maintenance treatment of glutaryl-CoA dehydrogenase deficiency. ( 15505396 )
2004
19
Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency. ( 15505393 )
2004
20
Glutaryl-CoA dehydrogenase deficiency: region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamen. ( 14598231 )
2003
21
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
22
Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct. ( 10960496 )
2000
23
Glutaric aciduria type 1 (glutaryl-CoA-dehydrogenase deficiency): advances and unanswered questions. Report from an international meeting. ( 9392391 )
1997
24
Variable clinical and biochemical presentation of seven Spanish cases with glutaryl-CoA-dehydrogenase deficiency. ( 8552212 )
1995
25
Prenatal diagnosis of glutaryl-CoA dehydrogenase deficiency: experience using first-trimester chorionic villus sampling. ( 8084854 )
1994

Variations for Glutaric Acidemia I

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

75 (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
3 GCDH p.Gly101Arg VAR_000368
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
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
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
26 GCDH p.Cys308Ser VAR_000393
27 GCDH p.Leu309Trp VAR_000394
28 GCDH p.Arg313Trp VAR_000395 rs779315456
29 GCDH p.Gln333Glu VAR_000396 rs794726972
30 GCDH p.Ala349Thr VAR_000397
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
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
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 179)
# Gene Variation Type Significance SNP ID Assembly Location
1 GCDH NM_000159.3(GCDH): c.883T> C (p.Tyr295His) single nucleotide variant Pathogenic rs121434366 GRCh37 Chromosome 19, 13007754: 13007754
2 GCDH NM_000159.3(GCDH): c.883T> C (p.Tyr295His) single nucleotide variant Pathogenic rs121434366 GRCh38 Chromosome 19, 12896940: 12896940
3 GCDH NM_000159.3(GCDH): c.1262C> T (p.Ala421Val) single nucleotide variant Pathogenic rs121434367 GRCh37 Chromosome 19, 13010300: 13010300
4 GCDH NM_000159.3(GCDH): c.1262C> T (p.Ala421Val) single nucleotide variant Pathogenic rs121434367 GRCh38 Chromosome 19, 12899486: 12899486
5 GCDH NM_000159.3(GCDH): c.877G> A (p.Ala293Thr) single nucleotide variant Pathogenic rs121434371 GRCh37 Chromosome 19, 13007748: 13007748
6 GCDH NM_000159.3(GCDH): c.877G> A (p.Ala293Thr) single nucleotide variant Pathogenic rs121434371 GRCh38 Chromosome 19, 12896934: 12896934
7 GCDH NM_000159.3(GCDH): c.1247C> T (p.Thr416Ile) single nucleotide variant Pathogenic rs121434368 GRCh37 Chromosome 19, 13010285: 13010285
8 GCDH NM_000159.3(GCDH): c.1247C> T (p.Thr416Ile) single nucleotide variant Pathogenic rs121434368 GRCh38 Chromosome 19, 12899471: 12899471
9 GCDH NM_000159.3(GCDH): c.1204C> T (p.Arg402Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121434369 GRCh37 Chromosome 19, 13008638: 13008638
10 GCDH NM_000159.3(GCDH): c.1204C> T (p.Arg402Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121434369 GRCh38 Chromosome 19, 12897824: 12897824
11 GCDH NM_000159.3(GCDH): c.1093G> A (p.Glu365Lys) single nucleotide variant Pathogenic rs121434370 GRCh37 Chromosome 19, 13008527: 13008527
12 GCDH NM_000159.3(GCDH): c.1093G> A (p.Glu365Lys) single nucleotide variant Pathogenic rs121434370 GRCh38 Chromosome 19, 12897713: 12897713
13 GCDH GCDH, IVS1, G-T, +5 single nucleotide variant Pathogenic
14 GCDH NM_000159.3(GCDH): c.1198G> A (p.Val400Met) single nucleotide variant Pathogenic/Likely pathogenic rs121434372 GRCh37 Chromosome 19, 13008632: 13008632
15 GCDH NM_000159.3(GCDH): c.1198G> A (p.Val400Met) single nucleotide variant Pathogenic/Likely pathogenic rs121434372 GRCh38 Chromosome 19, 12897818: 12897818
16 GCDH NM_000159.3(GCDH): c.680G> C (p.Arg227Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121434373 GRCh37 Chromosome 19, 13007063: 13007063
17 GCDH NM_000159.3(GCDH): c.680G> C (p.Arg227Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121434373 GRCh38 Chromosome 19, 12896249: 12896249
18 GCDH NM_000159.3(GCDH): c.542A> G (p.Glu181Gly) single nucleotide variant Pathogenic rs398123194 GRCh37 Chromosome 19, 13006842: 13006842
19 GCDH NM_000159.3(GCDH): c.542A> G (p.Glu181Gly) single nucleotide variant Pathogenic rs398123194 GRCh38 Chromosome 19, 12896028: 12896028
20 GCDH NM_000159.3(GCDH): c.636-1G> A single nucleotide variant Pathogenic rs398123195 GRCh37 Chromosome 19, 13007018: 13007018
21 GCDH NM_000159.3(GCDH): c.636-1G> A single nucleotide variant Pathogenic rs398123195 GRCh38 Chromosome 19, 12896204: 12896204
22 GCDH NM_000159.3(GCDH): c.1240G> A (p.Glu414Lys) single nucleotide variant Pathogenic rs147611168 GRCh37 Chromosome 19, 13008674: 13008674
23 GCDH NM_000159.3(GCDH): c.1240G> A (p.Glu414Lys) single nucleotide variant Pathogenic rs147611168 GRCh38 Chromosome 19, 12897860: 12897860
24 GCDH NM_000159.3(GCDH): c.262C> T (p.Arg88Cys) single nucleotide variant Pathogenic/Likely pathogenic rs142967670 GRCh38 Chromosome 19, 12891965: 12891965
25 GCDH NM_000159.3(GCDH): c.262C> T (p.Arg88Cys) single nucleotide variant Pathogenic/Likely pathogenic rs142967670 GRCh37 Chromosome 19, 13002779: 13002779
26 GCDH NM_000159.3(GCDH): c.271+1G> A single nucleotide variant Likely pathogenic rs786204639 GRCh38 Chromosome 19, 12891975: 12891975
27 GCDH NM_000159.3(GCDH): c.271+1G> A single nucleotide variant Likely pathogenic rs786204639 GRCh37 Chromosome 19, 13002789: 13002789
28 GCDH NM_000159.3(GCDH): c.383G> A (p.Arg128Gln) single nucleotide variant Likely pathogenic rs755586631 GRCh37 Chromosome 19, 13004345: 13004345
29 GCDH NM_000159.3(GCDH): c.383G> A (p.Arg128Gln) single nucleotide variant Likely pathogenic rs755586631 GRCh38 Chromosome 19, 12893531: 12893531
30 GCDH NM_000159.3(GCDH): c.416C> T (p.Ser139Leu) single nucleotide variant Pathogenic/Likely pathogenic rs139851890 GRCh37 Chromosome 19, 13004378: 13004378
31 GCDH NM_000159.3(GCDH): c.416C> T (p.Ser139Leu) single nucleotide variant Pathogenic/Likely pathogenic rs139851890 GRCh38 Chromosome 19, 12893564: 12893564
32 GCDH NM_000159.3(GCDH): c.482G> A (p.Arg161Gln) single nucleotide variant Pathogenic/Likely pathogenic rs777201305 GRCh38 Chromosome 19, 12893630: 12893630
33 GCDH NM_000159.3(GCDH): c.482G> A (p.Arg161Gln) single nucleotide variant Pathogenic/Likely pathogenic rs777201305 GRCh37 Chromosome 19, 13004444: 13004444
34 GCDH NM_000159.3(GCDH): c.533G> A (p.Gly178Glu) single nucleotide variant Likely pathogenic rs786204627 GRCh38 Chromosome 19, 12896019: 12896019
35 GCDH NM_000159.3(GCDH): c.533G> A (p.Gly178Glu) single nucleotide variant Likely pathogenic rs786204627 GRCh37 Chromosome 19, 13006833: 13006833
36 GCDH NM_000159.3(GCDH): c.769C> T (p.Arg257Trp) single nucleotide variant Pathogenic/Likely pathogenic rs766518430 GRCh38 Chromosome 19, 12896338: 12896338
37 GCDH NM_000159.3(GCDH): c.769C> T (p.Arg257Trp) single nucleotide variant Pathogenic/Likely pathogenic rs766518430 GRCh37 Chromosome 19, 13007152: 13007152
38 GCDH NM_000159.3(GCDH): c.1060G> A (p.Gly354Ser) single nucleotide variant Likely pathogenic rs768925619 GRCh38 Chromosome 19, 12897406: 12897406
39 GCDH NM_000159.3(GCDH): c.1060G> A (p.Gly354Ser) single nucleotide variant Likely pathogenic rs768925619 GRCh37 Chromosome 19, 13008220: 13008220
40 GCDH NM_000159.3(GCDH): c.1147C> T (p.Arg383Cys) single nucleotide variant Likely pathogenic rs150938052 GRCh38 Chromosome 19, 12897767: 12897767
41 GCDH NM_000159.3(GCDH): c.1147C> T (p.Arg383Cys) single nucleotide variant Likely pathogenic rs150938052 GRCh37 Chromosome 19, 13008581: 13008581
42 GCDH NM_000159.3(GCDH): c.1205G> A (p.Arg402Gln) single nucleotide variant Likely pathogenic rs786204626 GRCh38 Chromosome 19, 12897825: 12897825
43 GCDH NM_000159.3(GCDH): c.1205G> A (p.Arg402Gln) single nucleotide variant Likely pathogenic rs786204626 GRCh37 Chromosome 19, 13008639: 13008639
44 GCDH NM_000159.3(GCDH): c.1239C> A (p.Tyr413Ter) single nucleotide variant Likely pathogenic rs776082304 GRCh37 Chromosome 19, 13008673: 13008673
45 GCDH NM_000159.3(GCDH): c.1239C> A (p.Tyr413Ter) single nucleotide variant Likely pathogenic rs776082304 GRCh38 Chromosome 19, 12897859: 12897859
46 GCDH NM_000159.3(GCDH): c.675G> A (p.Trp225Ter) single nucleotide variant Likely pathogenic rs786205862 GRCh37 Chromosome 19, 13007058: 13007058
47 GCDH NM_000159.3(GCDH): c.675G> A (p.Trp225Ter) single nucleotide variant Likely pathogenic rs786205862 GRCh38 Chromosome 19, 12896244: 12896244
48 GCDH NM_000159.3(GCDH): c.856C> T (p.Pro286Ser) single nucleotide variant Likely pathogenic rs786205861 GRCh38 Chromosome 19, 12896913: 12896913
49 GCDH NM_000159.3(GCDH): c.856C> T (p.Pro286Ser) single nucleotide variant Likely pathogenic rs786205861 GRCh37 Chromosome 19, 13007727: 13007727
50 GCDH NM_000159.3(GCDH): c.885C> T (p.Tyr295=) single nucleotide variant Uncertain significance rs139192015 GRCh38 Chromosome 19, 12896942: 12896942

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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