Glutaric acidemia type 3

General Information (adopted from Orphanet):

Synonyms, Signs: GA III
Glutaric aciduria type 3
glutaryl-coa oxidase deficiency
Number of Symptoms 10
OrphanetNr: 35706
OMIM Id: 231690
ICD-10: E72.3
UMLs: C0342873
MeSH:
MedDRA:
Snomed: 238070003

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Disorder of peroxisomal alpha-, beta- and omega-oxidation
 -Rare genetic disease
Energy metabolism disorder with epilepsy
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0003150) Glutaric aciduria 7 / 7739
2
 (HPO:0000853) Goiter rare [HPO:skoehler] 39 / 7739
3
 (HPO:0000836) Hyperthyroidism rare [HPO:skoehler] 25 / 7739
4
 (HPO:0002014) Diarrhea 225 / 7739
5
 (HPO:0002013) Vomiting 191 / 7739
6
 (HPO:0001508) Failure to thrive 454 / 7739
7
 (HPO:0000822) Hypertension 224 / 7739
8
 (OMIM) Increased glutaric acid excretion with lysine loading 1 / 7739
9
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
10
 (OMIM) Peroxisomal glutaryl-CoA oxidase defect 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Bennett et al. (1991) described an apparently new peroxisomal disorder in a 1-year-old girl with failure to thrive and hematologic evidence of homozygous beta-thalassemia. The urinary finding of abnormal amounts of glutaric acid suggested the diagnosis of glutaric ...
Molecular genetics OMIM Using SNP genotyping and autozygosity mapping in 3 distantly related Amish children with glutaric aciduria type III, Sherman et al. (2008) identified a shared region of 4.7 Mb on chromosome 7. This region contained 25 genes including C7ORF10, ...