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Illness finder is a diagnostic medicine tool for educational purpose that looks up your patients' health conditions or symptoms and diagnosis and find diseases or illnesses based on chosen gender, age, risk factors, illness, signs, symptoms and prevalence. Illnessfinder is inspired by Evidence based medicine (EMB) and healthcare that aims to apply the best (most reliable) knowledge that is available at decision time. Illnessfinder aims to free up time for the therapeutic dialogue and ensure quality at the evidence based practice, uniting proven medical findings and clinical evidence with systematised data technology.
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| Pyruvate Carboxylase Deficiency Disease | Legal notice |
Other terms
Type II Ataxia with Lactic Acidosis,Deficiency Disease, Pyruvate Carboxylase,Lactic Acidosis with Ataxia, Type II,Ataxia with Lactic Acidosis 2,Ataxia with Lactic Acidosis, Type II,Pyruvate Carboxylase Deficiency,Carboxylase Deficiencies, Pyruvate,Carboxylase Deficiency, Pyruvate,Deficiencies, Pyruvate Carboxylase,Deficiency, Pyruvate Carboxylase,Pyruvate Carboxylase Deficiencies
Description
Pyruvate Carboxylase Deficiency Disease: 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)
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- Brain Diseases, Metabolic, Inborn
- Brain Diseases, Metabolic, Inborn
- Pyruvate Metabolism, Inborn Errors
- Brain Diseases, Metabolic, Inborn
- Brain Diseases, Metabolic, Inborn
- Pyruvate Metabolism, Inborn Errors
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