D-2-Hydroxyglutaric Aciduria 1

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OMIM 57 600721 Disease Ontology 12 DOID:0050575 Orphanet 59 ORPHA79315 ICD10 via Orphanet 34 E72.8 MedGen 42 C3152055 C1833429

MeSH 44 D020739 KEGG 37 H01225 SNOMED-CT via HPO 69 258211005 32958008 228156007 247578003 91138005 128613002 246545002 313307000 84757009 91175000 398151007 398152000 224958001 26544005 57809008 85898001 60234000 90145001 1023001 248583008 28987007 58596002 237960000 more UMLS 73 C3152055 C1833429 C2746066

NIH Rare Diseases : ⁵³ D-2-alpha hydroxyglutaric aciduria is an inheritedmetabolic condition that is associated with progressive brain damage. Signs and symptoms of this condition include developmental delay, seizures, hypotonia, and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. D-2-alpha hydroxyglutaric aciduria is caused by changes (mutations) in the D2HGDH 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 : D-2-Hydroxyglutaric Aciduria 1, also known as d-2-hydroxyglutaric aciduria, is related to 2-hydroxyglutaric aciduria and l-2-hydroxyglutaric aciduria, and has symptoms including dyspnea, seizures and stridor. An important gene associated with D-2-Hydroxyglutaric Aciduria 1 is D2HGDH (D-2-Hydroxyglutarate Dehydrogenase), and among its related pathways/superpathways are Citrate cycle (TCA cycle) and Glutathione metabolism. Affiliated tissues include brain and skeletal muscle, and related phenotypes are macrocephaly and frontal bossing

Disease Ontology : ¹² An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory.

OMIM : ⁵⁷ D-2-hydroxyglutaric aciduria is a neurometabolic disorder first described by Chalmers et al. (1980). Clinical symptoms include developmental delay, epilepsy, hypotonia, and dysmorphic features. Mild and severe phenotypes were characterized (van der Knaap et al., 1999). The severe phenotype is homogeneous and is characterized by early infantile-onset epileptic encephalopathy and, often, cardiomyopathy. The mild phenotype has a more variable clinical presentation. (600721)

UniProtKB/Swiss-Prot : ⁷⁵ D-2-hydroxyglutaric aciduria 1: A rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. Both a mild and a severe phenotype exist. The severe phenotype is homogeneous and is characterized by early infantile-onset epileptic encephalopathy and cardiomyopathy. The mild phenotype has a more variable clinical presentation. Diagnosis is based on the presence of an excess of D-2- hydroxyglutaric acid in the urine.

Clinical features from OMIM:

600721

Search Clinical Trials , NIH Clinical Center for D-2-Hydroxyglutaric Aciduria 1

Search GEO for disease gene expression data for D-2-Hydroxyglutaric Aciduria 1.