MCID: GLT029
MIFTS: 14

Glutaric Acidemia Type Iii

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

Aliases & Classifications for Glutaric Acidemia Type Iii

MalaCards integrated aliases for Glutaric Acidemia Type Iii:

Name: Glutaric Acidemia Type Iii 53
Glutaryl-Coa Oxidase Deficiency 53
Glutaric Aciduria Type Iii 53
Glutaric Acidemia Type 3 53
Glutaric Aciduria Type 3 53
Glutaric Aciduria Iii 72
Ga Iii 53

Classifications:



External Ids:

UMLS 72 C0342873

Summaries for Glutaric Acidemia Type Iii

NIH Rare Diseases : 53 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 Acidemia Type Iii, also known as glutaryl-coa oxidase deficiency, is related to glutaric aciduria iii and glutaric acidemia i, and has symptoms including vomiting and diarrhea.

Related Diseases for Glutaric Acidemia Type Iii

Diseases in the Glutaric Acidemia I family:

Glutaric Acidemia Type Iii

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

# Related Disease Score Top Affiliating Genes
1 glutaric aciduria iii 11.5
2 glutaric acidemia i 10.2
3 gastroenteritis 10.2
4 hyperthyroidism 10.2
5 trichothiodystrophy 1, photosensitive 10.1
6 alacrima, achalasia, and mental retardation syndrome 10.1
7 microcephaly 10.1
8 neuroblastoma 1 9.7
9 helix syndrome 9.7
10 carcinosarcoma 9.7

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



Diseases related to Glutaric Acidemia Type Iii

Symptoms & Phenotypes for Glutaric Acidemia Type Iii

UMLS symptoms related to Glutaric Acidemia Type Iii:


vomiting, diarrhea

Drugs & Therapeutics for Glutaric Acidemia Type 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 Acidemia Type Iii

Genetic Tests for Glutaric Acidemia Type Iii

Anatomical Context for Glutaric Acidemia Type Iii

Publications for Glutaric Acidemia Type Iii

Articles related to Glutaric Acidemia Type Iii:

# Title Authors PMID Year
1
Glutaric aciduria type III: a distinctive non-disease? 38
12555941 2002
2
Clinical and biochemical characteristics of peroxisomal disorders: an update. 38
7957386 1994

Variations for Glutaric Acidemia Type Iii

Expression for Glutaric Acidemia Type Iii

Search GEO for disease gene expression data for Glutaric Acidemia Type Iii.

Pathways for Glutaric Acidemia Type Iii

GO Terms for Glutaric Acidemia Type Iii

Sources for Glutaric Acidemia Type Iii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....