NIH Rare Diseases
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53
2-hydroxyglutaric aciduria is a condition that causes progressive damage to the brain. The major types of this disorder are called D-2-hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA). The main features of D-2-HGA vary within the different types but, in general, may include delayed development; 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. The different types and subtypes are caused by different genemutations and are inherited in an autosomal recessive pattern, except for a D-2HGA subtype, known as type II D-2-HGA, which is inherited in an autosomal dominant pattern. There is no cure yet. Treatment depends on the symptoms. Management mainly involves control of seizures when they are present.
MalaCards based summary
:
2-Hydroxyglutaric Aciduria, also known as
combined d-2- and l-2-hydroxyglutaric aciduria, is related to
l-2-hydroxyglutaric aciduria and
d-2-hydroxyglutaric aciduria 1, and has symptoms including
dyspnea,
seizures and
stridor. An important gene associated with 2-Hydroxyglutaric Aciduria is
L2HGDH (L-2-Hydroxyglutarate Dehydrogenase), and among its related pathways/superpathways are
Metabolism and
Glucose / Energy Metabolism. Affiliated tissues include
brain.
Genetics Home Reference
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2-hydroxyglutaric aciduria is a condition that causes progressive damage to the brain. The major types of this disorder are called D-2-hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA).
Disease Ontology
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An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage.
Wikipedia
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2-hydroxyglutaric aciduria is a rare neurometabolic disorder characterized by the significantly elevated...
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