L-2-Hydroxyglutaric Aciduria

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OMIM 57 236792 Disease Ontology 12 DOID:0050574 Orphanet 59 ORPHA79314 ICD10 via Orphanet 34 E72.8 UMLS via Orphanet 74 C1855995 C3888081

MedGen 42 C1855995 MeSH 44 D008661 KEGG 37 H01280 SNOMED-CT via HPO 69 258211005 103276001 15188001 343087000 95828007 128602000 22066006 563001 76976005 25786006 277843001 128613002 246545002 313307000 84757009 91175000 398151007 398152000 95646004 298282001 43378000 76349003 359580009 81415000 22811006 20301004 609225004 45170000 126950007 14648003 253142006 40700009 237961001 more UMLS 73 C1855995 C2746066 C3888081

NIH Rare Diseases : ⁵³ L-2-hydroxyglutaric aciduria is an inheritedmetabolic condition that is associated with progressive brain damage. Signs and symptoms of this condition typically begin during infancy or early childhood and may include developmental delay, seizures, speech difficulties, macrocephaly and abnormalities in a part of the brain called the cerebellum, which is involved in coordinating movement (i.e. balance and muscle coordination). L-2-hydroxyglutaric aciduria is caused by changes (mutations) in the L2HGDH gene and is inherited in an autosomal recessive manner. Treatment is focused on alleviating the signs and symptoms of the condition, such as medications to control seizures.

MalaCards based summary : L-2-Hydroxyglutaric Aciduria, also known as l-2-hydroxyglutaric acidemia, is related to 2-hydroxyglutaric aciduria and d-2-hydroxyglutaric aciduria 1, and has symptoms including seizures, abnormal pyramidal signs and abnormality of extrapyramidal motor function. An important gene associated with L-2-Hydroxyglutaric Aciduria is L2HGDH (L-2-Hydroxyglutarate Dehydrogenase), and among its related pathways/superpathways are Butanoate metabolism and Pyruvate metabolism and Citric Acid (TCA) cycle. Affiliated tissues include cerebellum, brain and liver, and related phenotypes are macrocephaly and behavioral abnormality

UniProtKB/Swiss-Prot : ⁷⁵ L-2-hydroxyglutaric aciduria: A rare autosomal recessive disorder clinically characterized by mild psychomotor delay in the first years of life, followed by progressive cerebellar ataxia, dysarthria and moderate to severe mental retardation. Diagnosis is based on the presence of an excess of L-2- hydroxyglutaric acid in urine, blood and cerebrospinal fluid.

Disease Ontology : ¹² An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia).

Description from OMIM: 236792

Clinical features from OMIM:

236792

Search Clinical Trials , NIH Clinical Center for L-2-Hydroxyglutaric Aciduria

Search GEO for disease gene expression data for L-2-Hydroxyglutaric Aciduria.