Combined D-2- and L-2-hydroxyglutaric aciduria

Preferred Label : Combined D-2- and L-2-hydroxyglutaric aciduria;

Symbol : D2L2AD;

CISMeF acronym : D2L2AD;

Type : Phenotype, molecular basis known;

Description : Combined D-2- and L-2-hydroxyglutaric aciduria (D-2-HG and L-2-HG) is an autosomal recessive neurometabolic disorder characterized by neonatal-onset encephalopathy with severe muscular weakness, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death. Brain imaging shows abnormalities including enlarged ventricles, delayed myelination, and germinal layer cysts (summary by Muntau et al., 2000). See also isolated L-2-hydroxyglutaric aciduria (236792) and isolated D-2-hydroxyglutaric aciduria (see 600721).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 25 (mitochondrial citrate transporter), member 1 gene (SLC25A1, 190315.0001);

Laboratory abnormalities : Increased urinary, plasma, and CSF L-2-hydroxyglutaric acid; Increased urinary 2-oxoglutaric acid; Increased urinary, plasma, and CSF D-2-hydroxyglutaric acid; Predominance of the D-stereoisomer;

Prefixed ID : #615182;

Details

Origin ID

615182;

UMLS CUI

C5574940;

Automatic exact mappings (from CISMeF team)
- combined D-2- and L-2-hydroxyglutaric aciduria [DO Concept]
CISMeF manual mappings
- Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- 2-Hydroxyglutaric Aciduria [NCIt concept]
- 2-Hydroxyglutaricaciduria [MeSH Supplementary Concept]
- 2-Hydroxyglutaricaciduria [MeSH concept]
- 2-hydroxyglutarate aciduria [HPO term]
- 2-hydroxyglutaric aciduria [DO Concept]
- 2-hydroxyglutaric aciduria [ICD-11 More detail]
- 2-hydroxyglutaric aciduria [ORDO Disease]
- 2-hydroxyglutaric aciduria (disorder) [SNOMED CT concept]
- D,L-2-hydroxyglutaric aciduria [ORDO Disease]
DO Cross reference
- combined D-2- and L-2-hydroxyglutaric aciduria [DO Concept]
Genes related to phenotype
- Solute carrier family 25 (mitochondrial carrier, citrate transporter), member 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cerebral visual impairment [HPO term]
- Delayed myelination [HPO term]
- Dyspnea [HPO term]
- Encephalopathy [HPO term]
- Feeding difficulties [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- Irritability [HPO term]
- L-2-hydroxyglutaric aciduria [HPO term]
- Macrocephaly [HPO term]
- Microcephaly [HPO term]
- Poor eye contact [HPO term]
- Respiratory insufficiency [HPO term]
- Seizure [HPO term]
- Severe muscular hypotonia [HPO term]
- Stridor [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- D,L-2-hydroxyglutaric aciduria [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 2-Hydroxyglutaric Aciduria [NCIt concept]
- 2-Hydroxyglutaric aciduria [MedDRA Preferred Term]
- 2-Hydroxyglutaricaciduria [MeSH Supplementary Concept]
- 2-Hydroxyglutaricaciduria [MeSH concept]
- 2-hydroxyglutaric aciduria [ORDO Disease]
- 2-hydroxyglutaric aciduria [DO Concept]
- 2-hydroxyglutaric aciduria [ICD-11 More detail]
- 2-hydroxyglutaric aciduria (disorder) [SNOMED CT concept]
- Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria (disorder) [SNOMED CT concept]
- D-2-hydroxyglutaric aciduria [ORDO Disease]
Validated automatic mappings to NTBT
- 2-Hydroxyglutaric Aciduria [NCIt concept]
- D-2-hydroxyglutaric aciduria [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients