D,L-2-HYDROXYGLUTARIC ACIDURIA

rare (<1:1000000) autosoma recessive mutation in the SLC25A1 gene

D,L-2-Hydroxyglutarazidurie; D,L-2-Hydroxyglutarazidämie

Tricarboxylate transport protein, mitochondrial

Question 1

What is  D,L-2-HYDROXYGLUTARIC ACIDURIA?

Accepted Answer

rare (<1:1000000)
autosoma recessive
mutation in the SLC25A1 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

D,L-2-Hydroxyglutarazidurie; D,L-2-Hydroxyglutarazidämie

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 615182

Question 4

Which enzymes are involved?

Accepted Answer

Tricarboxylate transport protein, mitochondrial

Disease	D,L-2-HYDROXYGLUTARIC ACIDURIA
Synonym	COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA; D2L2AD; DL2HGA
OMIM	615182 OMIM = Online Mendelian Inheritance of Men
Orphanet	356978
Protein (UniProt)	Tricarboxylate transport protein, mitochondrial
Gene locus	22q11.21
ICD	E72.8
Summary	rare (<1:1000000) autosoma recessive mutation in the SLC25A1 gene
Laboratory findings	2-Hydroxyglutaric acid (D) inc (urine) 2-Hydroxyglutaric acid (L) inc (urine) 2-Hydroxyglutaric acid (D) inc (plasma) 2-Hydroxyglutaric acid (D) inc (cerebrospinal fluid) 2-Hydroxyglutaric acid (L) (plasma) 2-Hydroxyglutaric acid (L) inc (cerebrospinal fluid) 2-Oxoglutaric acid inc (urine)
Symptoms	blindness, visual loss, visual impairment cerebellar atrophy or hypoplasia developmental regression dyspnea dystonia early death encephalopathy feeding difficulties, poor feeding hepatomegaly (large liver) hypotonia irritability macrocephaly (large calvaria, >2 SD for age) microcephaly (<2 SD for age) motor retardation myelination, incomplete, hypomyelination onset, infancy onset, neonatal respiratory insufficiency seizures stridor