2-HYDROXYGLUTARIC ACIDURIA (D) TYPE II

Q: What is 2-HYDROXYGLUTARIC ACIDURIA (D) TYPE II?

rare ( autosomal dominant / autosomal recessive (?) mutations in the mitochondrial isocitrate dehydrogenase-2 gene biochemical variants of 2-hydroxyglutaric aciduria: - L-2-hydroxyglutaric aciduria - D-2-hydroxyglutaric aciduria - combined D-2- and L-2-hydroxyglutaric aciduria

Q: Gibt es eine deutsche Bezeichnung?

D-2-Hydroxyglutaryl-Azidurie Typ 2

Q: Which enzymes are involved?

Isocitrate dehydrogenase [NADP], mitochondrial

Question 1

What is  2-HYDROXYGLUTARIC ACIDURIA (D) TYPE II?

Accepted Answer

rare (<1:1000000)
autosomal dominant / autosomal recessive (?)
mutations in the mitochondrial isocitrate dehydrogenase-2 gene
biochemical variants of 2-hydroxyglutaric aciduria: - L-2-hydroxyglutaric aciduria - D-2-hydroxyglutaric aciduria - combined D-2- and L-2-hydroxyglutaric aciduria

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

D-2-Hydroxyglutaryl-Azidurie Typ 2

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 613657

Question 4

Which enzymes are involved?

Accepted Answer

Isocitrate dehydrogenase [NADP], mitochondrial

Disease	2-HYDROXYGLUTARIC ACIDURIA (D) TYPE II
Synonym	D-2-HYDROXYGLUTARIC ACIDURIA 2; D2HGA2
OMIM	613657 OMIM = Online Mendelian Inheritance of Men
Orphanet	79315
Protein (UniProt)	Isocitrate dehydrogenase [NADP], mitochondrial
ExPASy	1.1.1.42
Gene locus	15q26.1
ICD	E72.8
Summary	rare (<1:1000000) autosomal dominant / autosomal recessive (?) mutations in the mitochondrial isocitrate dehydrogenase-2 gene biochemical variants of 2-hydroxyglutaric aciduria: - L-2-hydroxyglutaric aciduria - D-2-hydroxyglutaric aciduria - combined D-2- and L-2-hydroxyglutaric aciduria
Laboratory findings	2-Hydroxyglutaric acid (D) inc (urine) 2-Hydroxyglutaric acid (D) inc (plasma) 2-Hydroxyglutaric acid (D) inc (cerebrospinal fluid)
Symptoms	cardiomyopathy hypotonia cardiomegaly epilepsy no clinical symptoms (probably) seizures developmental delay dysmorphism onset, childhood onset, infancy speech development, delayed, abnormal