GA3
MCID: GLT028
MIFTS: 28

Glutaric Aciduria Iii (GA3)

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

Aliases & Classifications for Glutaric Aciduria Iii

MalaCards integrated aliases for Glutaric Aciduria Iii:

Name: Glutaric Aciduria Iii 56 71
Glutaryl-Coa Oxidase Deficiency 56 52 58 73 29 6 39
Ga Iii 56 52 73
Glutaric Acidemia Type 3 52 58
Glutaric Aciduria Type 3 52 58
Ga3 56 73
Glutaric Acidemia Type Iii 52
Glutaric Aciduria Type Iii 52
Glutaric Aciduria 3 73

Characteristics:

Orphanet epidemiological data:

58
glutaric acidemia type 3
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
no consistent disease phenotype
many patients are asymptomatic
treatment with riboflavin has been helpful in some patients


HPO:

31
glutaric aciduria iii:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

OMIM 56 231690
MeSH 43 D000592
ICD10 via Orphanet 33 E72.3
UMLS via Orphanet 72 C0342873
Orphanet 58 ORPHA35706
MedGen 41 C0342873
UMLS 71 C0342873

Summaries for Glutaric Aciduria Iii

NIH Rare Diseases : 52 Glutaric acidemia type III is a rare metabolic condition characterized by persistent, isolated accumulation or excretion of glutaric acid. No specific phenotype has been described, as symptoms vary and some individuals remain symptom-free. Unlike other types of glutaric acidemia, this type is caused by a peroxisomal rather than a mitochondrial dysfunction. Mutations in the C7ORF10 gene on chromosome 7p14 have been identified in some people with glutaric acidemia type III and the condition follows an autosomal recessive pattern of inheritance. Treatment with riboflavin has been helpful in some patients.

MalaCards based summary : Glutaric Aciduria Iii, also known as glutaryl-coa oxidase deficiency, is related to haemophilus influenzae and lung disease, immunodeficiency, and chromosome breakage syndrome, and has symptoms including vomiting and diarrhea. An important gene associated with Glutaric Aciduria Iii is SUGCT (Succinyl-CoA:Glutarate-CoA Transferase). Affiliated tissues include lung, and related phenotypes are hyperthyroidism and goiter

OMIM : 56 Glutaric aciduria III is characterized by an isolated accumulation of glutaric acid. It appears to be a 'non-disease' as it is found in healthy individuals and is associated with inconsistent symptoms in others (summary by Marlaire et al., 2014). (231690)

UniProtKB/Swiss-Prot : 73 Glutaric aciduria 3: A metabolic disorder due to peroxisomal glutaryl-CoA oxidase deficiency and characterized by the excretion of abnormal quantities of glutaric acid but low 3-hydroxyglutaric acid.

Related Diseases for Glutaric Aciduria Iii

Diseases related to Glutaric Aciduria Iii via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 haemophilus influenzae 10.4
2 lung disease, immunodeficiency, and chromosome breakage syndrome 10.3
3 glutaric acidemia i 10.2
4 gastroenteritis 10.2
5 hyperthyroidism 10.2
6 trichothiodystrophy 1, photosensitive 10.1
7 alacrima, achalasia, and mental retardation syndrome 10.1
8 microcephaly 10.1
9 helix syndrome 9.7
10 carcinosarcoma 9.7
11 neuroblastoma 9.7

Graphical network of the top 20 diseases related to Glutaric Aciduria Iii:



Diseases related to Glutaric Aciduria Iii

Symptoms & Phenotypes for Glutaric Aciduria Iii

Human phenotypes related to Glutaric Aciduria Iii:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 hyperthyroidism 31 occasional (7.5%) HP:0000836
2 goiter 31 occasional (7.5%) HP:0000853
3 failure to thrive 31 HP:0001508
4 hypertension 31 HP:0000822
5 vomiting 31 HP:0002013
6 diarrhea 31 HP:0002014
7 glutaric aciduria 31 HP:0003150

Symptoms via clinical synopsis from OMIM:

56
Growth Other:
failure to thrive

Abdomen Gastrointestinal:
vomiting
diarrhea

Endocrine Features:
goiter (rare)
hyperthyroidism (rare)

Cardiovascular Vascular:
hypertension

Laboratory Abnormalities:
glutaric aciduria
normal urinary 3-hydroxyglutarate level
normal urinary glutarylcarnitine level
normal glutarylglycine level

Clinical features from OMIM:

231690

UMLS symptoms related to Glutaric Aciduria Iii:


vomiting, diarrhea

Drugs & Therapeutics for Glutaric Aciduria Iii

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effects of Elastic Therapeutic Tape on Biomechanical Changes of Knee Joint During Drop Vertical Jump in ACL Injuries Completed NCT02271061

Search NIH Clinical Center for Glutaric Aciduria Iii

Genetic Tests for Glutaric Aciduria Iii

Genetic tests related to Glutaric Aciduria Iii:

# Genetic test Affiliating Genes
1 Glutaryl-Coa Oxidase Deficiency 29 SUGCT

Anatomical Context for Glutaric Aciduria Iii

MalaCards organs/tissues related to Glutaric Aciduria Iii:

40
Lung

Publications for Glutaric Aciduria Iii

Articles related to Glutaric Aciduria Iii:

# Title Authors PMID Year
1
Glutaric aciduria type III: a distinctive non-disease? 61 56 6
12555941 2002
2
Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10. 56 6
18926513 2008
3
Atypical riboflavin-responsive glutaric aciduria, and deficient peroxisomal glutaryl-CoA oxidase activity: a new peroxisomal disorder. 56 6
1909402 1991
4
C7orf10 encodes succinate-hydroxymethylglutarate CoA-transferase, the enzyme that converts glutarate to glutaryl-CoA. 56
23893049 2014
5
Clinical and biochemical characteristics of peroxisomal disorders: an update. 61
7957386 1994

Variations for Glutaric Aciduria Iii

ClinVar genetic disease variations for Glutaric Aciduria Iii:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SUGCT NM_024728.2(SUGCT):c.424C>T (p.Arg142Ter)SNV Pathogenic 1850 rs137852861 7:40277263-40277263 7:40237664-40237664
2 SUGCT NM_024728.2(SUGCT):c.895C>T (p.Arg299Trp)SNV Conflicting interpretations of pathogenicity 1849 rs137852860 7:40498796-40498796 7:40459197-40459197
3 SUGCT NM_024728.2(SUGCT):c.322C>T (p.Arg108Ter)SNV Uncertain significance 1851 rs137852862 7:40228168-40228168 7:40188569-40188569
4 SUGCT NM_024728.2(SUGCT):c.1063C>T (p.Gln355Ter)SNV Uncertain significance 634624 rs201987458 7:40723718-40723718 7:40684119-40684119

UniProtKB/Swiss-Prot genetic disease variations for Glutaric Aciduria Iii:

73
# Symbol AA change Variation ID SNP ID
1 SUGCT p.Arg336Trp VAR_054852 rs137852860

Expression for Glutaric Aciduria Iii

Search GEO for disease gene expression data for Glutaric Aciduria Iii.

Pathways for Glutaric Aciduria Iii

GO Terms for Glutaric Aciduria Iii

Sources for Glutaric Aciduria Iii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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