Alpha-ketoglutarate dehydrogenase deficiency
From WikiMD's WELLNESSPEDIA
Other Names: Alpha KGD deficiency; 2 alpha ketoglutarate dehydrogenase deficiency; Oxoglutaricaciduria
A rare, genetic, inborn error of metabolism disorder characterized by neonatal-onset of developmental delay, hypotonia, hepatomegaly, lactic acidemia, increased creatine kinase levels, elevated alpha-ketoglutaric acid in urine, and a decreased plasma beta-hydroxybutyrate-to-acetoacetate ratio. Pyruvate dehydrogenase deficiency can be associated, leading to hypoglycemia and neurologic anomalies, including seizures.
NIH genetic and rare disease info[edit]
Alpha-ketoglutarate dehydrogenase deficiency is a rare disease.
| Rare and genetic diseases | ||||||
|---|---|---|---|---|---|---|
|
Rare diseases - Alpha-ketoglutarate dehydrogenase deficiency
|
 | This medical article is a stub. You can help WikiMD by expanding the page. |
