2-HYDROXYGLUTARIC ACIDURIA (D) TYPE I

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

rare ( autosomal recessive mutation in the D-2-hydroxyglutarate dehydrogenase gene biochemical variant 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 1

Q: Which enzymes are involved?

D-2-hydroxyglutarate dehydrogenase, mitochondrial

Question 1

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

Accepted Answer

rare (<1:1000000)
autosomal recessive
mutation in the D-2-hydroxyglutarate dehydrogenase gene
biochemical variant 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 1

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 600721

Question 4

Which enzymes are involved?

Accepted Answer

D-2-hydroxyglutarate dehydrogenase, mitochondrial

Disease	2-HYDROXYGLUTARIC ACIDURIA (D) TYPE I
Synonym	D-2-HYDROXYGLUTARIC ACIDURIA 1; D2HGA1
OMIM	600721 OMIM = Online Mendelian Inheritance of Men
Orphanet	79315
Protein (UniProt)	D-2-hydroxyglutarate dehydrogenase, mitochondrial
ExPASy	1.1.99.39
Gene locus	2q37.3
ICD	E72.8
Summary	rare (<1:1000000) autosomal recessive mutation in the D-2-hydroxyglutarate dehydrogenase gene biochemical variant 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 (cerebrospinal fluid) 2-Hydroxyglutaric acid (D) inc (plasma) 2-Oxoglutaric acid inc (urine) 4-Aminobutyric acid inc (cerebrospinal fluid) Succinic acid inc (urine)
Symptoms	cardiomyopathy developmental delay epilepsy hypotonia macrocephaly (large calvaria, >2 SD for age) mental retardation seizures vomiting alopecia anemia athetosis bleeding tendencies, hemorrhages blindness, visual loss, visual impairment corpus callosum, agenesis/hypoplasia dysmorphism EEG abnormalities [-] hyperpigmentation infantile spasms irritability metaphyseal dysplasia MRI, brain, abnormalities [-] MRI, brain, white matter abnormalities [-] onset, infancy onset, neonatal Organic acid, spinal fluid Organic acids, plasma Organic acids, urine peripheral neuropathy speech development, delayed, abnormal white matter changes, abnormalities