Search Login Register

Pyruvate Carboxylase Deficiency Disease Summary

Description: An autosomal recessive metabolic disorder caused by absent or decreased PYRUVATE CARBOXYLASE activity, the enzyme that regulates gluconeogenesis, lipogenesis, and neurotransmitter synthesis. Clinical manifestations include lactic acidosis, seizures, respiratory distress, marked psychomotor delay, periodic HYPOGLYCEMIA, and hypotonia. The clinical course may be similar to LEIGH DISEASE. (From Am J Hum Genet 1998 Jun;62(6):1312-9)

Also Known As: Ataxia with Lactic Acidosis 2; Deficiency Disease, Pyruvate Carboxylase; Pyruvate Carboxylase Deficiency; Type II Ataxia with Lactic Acidosis; Carboxylase Deficiencies, Pyruvate; Carboxylase Deficiency, Pyruvate; Deficiencies, Pyruvate Carboxylase; Deficiency, Pyruvate Carboxylase; Pyruvate Carboxylase Deficiencies; Ataxia with Lactic Acidosis, Type II; Lactic Acidosis with Ataxia, Type II

Networked: 30 relevant articles (0 outcomes, 2 trials/studies) for this Disease

Key Drugs and Agents for Pyruvate Carboxylase Deficiency Disease

Efficacy Chart >>
Drugs and Important Biological Agents (IBA) related to treatments:
  1. Pyruvate Carboxylase : 1 study in 5 results : IBA
  2. Carbon : 1 study in 2 results : IBA
  3. triheptanoin : 1 study in 2 results : IBA
  4. Pyruvic Acid (Pyruvate) : 6 results : IBA
  5. Biotin (Vitamin H) : 5 results : FDA 13
  6. Urea (Carbamide) : 3 results : FDA 6 Generic
  7. Aspartic Acid (Aspartate) : 3 results : FDA 7
  8. Oxaloacetate : 2 results : IBA
  9. Lactic Acid : 2 results : FDA 4 Generic
  10. 3-Hydroxybutyric Acid (beta-Hydroxybutyric Acid) : 1 result : IBA
Show All >>

Diseases Related to Pyruvate Carboxylase Deficiency Disease

  1. Lactic Acidosis
  2. Propionic Acidemia
  3. Hyperammonemia
  4. Hyperlysinemias (Hyperlysinemia)
  5. Infantile Spasms (West Syndrome)
Show All >>

Key Therapies for Pyruvate Carboxylase Deficiency Disease

Efficacy Chart >>
  1. Liver Transplantation : 1 result
  2. Diet Therapy (Therapy, Diet) : 1 result

CureHunter Inc. provides medical information and specifically does NOT provide medical advice.
© Copyright 2003-2016 CureHunter Inc., MeSH copyright NLM, Journal Articles copyright original owners.