Diseases

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)

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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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Synonyms

8 entry terms
  • Ataxia with Lactic Acidosis 2
  • Ataxia with Lactic Acidosis II
  • Ataxia with Lactic Acidosis, Type II
  • Deficiency Disease, Pyruvate Carboxylase
  • Lactic Acidosis with Ataxia, Type II
  • Pyruvate Carboxylase Deficiency
  • Type II Ataxia with Lactic Acidosis
  • Deficiency, Pyruvate Carboxylase

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

2000(1989); use PYRUVATE METABOLISM, INBORN ERRORS 1989-1990

MeSH Record

Previous Indexing

  • Pyruvate Carboxylase/deficiency (1974-1988)

MeSH Hierarchy

Tree Numbers

  1. C10w.228w.140w.163.100.725w
  2. C16w.320w.565w.189.725w
  3. C16w.320w.565w.202w.810.666w
  4. C18.452w.132.100.725w
  5. C18.452w.648w.189.725w
  6. C18.452w.648w.202w.810.666w
  7. C18.452w.660w.705w

AMA Style

References

  1. National Library of Medicine. Pyruvate Carboxylase Deficiency Disease. Medical Subject Headings (MeSH). 2026. Unique ID D015324. http://id.nlm.nih.gov/mesh/2026/D015324
  2. Pyruvate Carboxylase Deficiency Disease. In: Wikipedia. https://en.wikipedia.org/wiki/Pyruvate_carboxylase_deficiency
  3. Pyruvate Carboxylase Deficiency Disease. In: Wikidata. https://www.wikidata.org/wiki/Q7263794