Alpha-ketoglutarate dehydrogenase deficiency

Synonyms

Alpha KGD deficiency
2 alpha ketoglutarate dehydrogenase deficiency
Oxoglutaricaciduria

Overview

A metabolic disorder characterized by a deficiency of Alpha-ketoglutarate dehydrogenase which results in high levels of oxoglutaric acid in the urine as well as other severe symptoms.

Symptoms

  • Psychomotor retardation
  • Reduced muscle tone
  • Ataxia
  • Convulsions
  • Sudden death
  • Amyotrophy
  • Muscle agenesis
  • Spasticity
  • Rigidity
  • Increased muscle tone
  • Mental retardation
  • Short stature
  • Salivary gland anomaly
  • Hydrocephaly
  • Movement disorder
  • Myocardiopathy
  • Liver disorders
  • High lactic acid level in blood
  • High urine level of glutaric acid
  • Cognitive impairment
  • Hypertonia
  • Incoordination
  • Short stature
  • Skeletal muscle atrophy

Resources

  • NIH