GLUTARIC ACIDURIA TYPE III

Question 1

What is  GLUTARIC ACIDURIA TYPE III?

Accepted Answer

rare
autosomal recessive
mutation in the C7ORF10 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Glutarazidurie Typ 3; Glutaryl-CoA-Oxidase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 231690

Question 4

Which enzymes are involved?

Accepted Answer

Succinate--hydroxymethylglutarate CoA-transferase

Disease	GLUTARIC ACIDURIA TYPE III
Synonym	GLUTARYL-CoA OXIDASE DEFICIENCY
OMIM	231690 OMIM = Online Mendelian Inheritance of Men
Orphanet	35706
Protein (UniProt)	Succinate--hydroxymethylglutarate CoA-transferase
Gene locus	7p14.1
ICD	E72.3
Summary	rare autosomal recessive mutation in the C7ORF10 gene
Laboratory findings	Glutaric acid inc (urine) Glutaric acid inc (plasma) 3-Hydroxyglutaric acid normal (urine)
Symptoms	no clinical symptoms (probably) diarrhea dysmorphism failure to thrive goiter hypertension hyperthyroidism onset, childhood onset, infancy onset, neonatal vomiting