Pyruvate carboxylase deficiency

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Pyruvate carboxylase deficiency
Oxaloacetic acid.png
Oxaloacetate is the product of pyruvate carboxylase
ICD-10 E74.4
OMIM 266150
DiseasesDB 7378
eMedicine med/1979  ped/1967
MeSH D015324

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Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid and other potentially toxic compounds to accumulate in the blood. High levels of these substances can damage the body's organs and tissues, particularly in the nervous system. Pyruvate carboxylase deficiency is a rare condition, with an estimated incidence of 1 in 250,000 births worldwide. This disorder appears to be much more common in some Algonkian Indian tribes in eastern Canada.

Classification

Researchers have identified at least three types of pyruvate carboxylase deficiency, which are distinguished by the severity of their signs and symptoms.

Type A

Type A, which has been identified mostly in people from North America, has moderately severe symptoms that begin in infancy. Characteristic features include developmental delay and a buildup of lactic acid in the blood (lactic acidosis). Increased acidity in the blood can lead to vomiting, abdominal pain, extreme tiredness (fatigue), muscle weakness, and difficulty breathing. In some cases, episodes of lactic acidosis are triggered by an illness or periods without food. Children with pyruvate carboxylase deficiency type A typically survive only into early childhood.

Type B

Pyruvate carboxylase deficiency type B has life-threatening signs and symptoms that become apparent shortly after birth. This form of the condition has been reported mostly in Europe, particularly France. Affected infants have severe lactic acidosis, a buildup of ammonia in the blood (hyperammonemia), and liver failure. They experience neurological problems including weak muscle tone (hypotonia), abnormal movements, seizures, and coma. Infants with this form of the condition usually survive for less than 3 months after birth.

Type C

A milder form of pyruvate carboxylase deficiency, sometimes called type C, has also been described. This type is characterized by slightly increased levels of lactic acid in the blood and minimal signs and symptoms affecting the nervous system.

Genetics

Pyruvate carboxylase deficiency is inherited in an autosomal recessive pattern.

Mutations in the PC gene cause pyruvate carboxylase deficiency. The PC gene provides instructions for making an enzyme called pyruvate carboxylase. This enzyme is active in mitochondria, which are the energy-producing centers within cells. It is involved in several important cellular functions including the generation of glucose, a simple sugar that is the body's main energy source. Pyruvate carboxylase also plays a role in the formation of the protective sheath that surrounds certain nerve cells (myelin) and the production of brain chemicals called neurotransmitters.

Mutations in the PC gene reduce the amount of pyruvate carboxylase in cells or disrupt the enzyme's activity. The missing or altered enzyme cannot carry out its essential role in generating glucose, which impairs the body's ability to make energy in mitochondria. Additionally, a loss of pyruvate carboxylase allows potentially toxic compounds such as lactic acid and ammonia to build up and damage organs and tissues. Researchers suggest that the loss of pyruvate carboxylase function in the nervous system, particularly the role of the enzyme in myelin formation and neurotransmitter production, also contributes to the neurologic features of pyruvate carboxylase deficiency.

This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder.

Reference

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| group5 = Clinical Trials Involving Pyruvate carboxylase deficiency | list5 = Ongoing Trials on Pyruvate carboxylase deficiency at Clinical Trials.govTrial results on Pyruvate carboxylase deficiencyClinical Trials on Pyruvate carboxylase deficiency at Google


| group6 = Guidelines / Policies / Government Resources (FDA/CDC) Regarding Pyruvate carboxylase deficiency | list6 = US National Guidelines Clearinghouse on Pyruvate carboxylase deficiencyNICE Guidance on Pyruvate carboxylase deficiencyNHS PRODIGY GuidanceFDA on Pyruvate carboxylase deficiencyCDC on Pyruvate carboxylase deficiency


| group7 = Textbook Information on Pyruvate carboxylase deficiency | list7 = Books and Textbook Information on Pyruvate carboxylase deficiency


| group8 = Pharmacology Resources on Pyruvate carboxylase deficiency | list8 = AND (Dose)}} Dosing of Pyruvate carboxylase deficiencyAND (drug interactions)}} Drug interactions with Pyruvate carboxylase deficiencyAND (side effects)}} Side effects of Pyruvate carboxylase deficiencyAND (Allergy)}} Allergic reactions to Pyruvate carboxylase deficiencyAND (overdose)}} Overdose information on Pyruvate carboxylase deficiencyAND (carcinogenicity)}} Carcinogenicity information on Pyruvate carboxylase deficiencyAND (pregnancy)}} Pyruvate carboxylase deficiency in pregnancyAND (pharmacokinetics)}} Pharmacokinetics of Pyruvate carboxylase deficiency


| group9 = Genetics, Pharmacogenomics, and Proteinomics of Pyruvate carboxylase deficiency | list9 = AND (pharmacogenomics)}} Genetics of Pyruvate carboxylase deficiencyAND (pharmacogenomics)}} Pharmacogenomics of Pyruvate carboxylase deficiencyAND (proteomics)}} Proteomics of Pyruvate carboxylase deficiency


| group10 = Newstories on Pyruvate carboxylase deficiency | list10 = Pyruvate carboxylase deficiency in the newsBe alerted to news on Pyruvate carboxylase deficiencyNews trends on Pyruvate carboxylase deficiency


| group11 = Commentary on Pyruvate carboxylase deficiency | list11 = Blogs on Pyruvate carboxylase deficiency

| group12 = Patient Resources on Pyruvate carboxylase deficiency | list12 = Patient resources on Pyruvate carboxylase deficiencyDiscussion groups on Pyruvate carboxylase deficiencyPatient Handouts on Pyruvate carboxylase deficiencyDirections to Hospitals Treating Pyruvate carboxylase deficiencyRisk calculators and risk factors for Pyruvate carboxylase deficiency


| group13 = Healthcare Provider Resources on Pyruvate carboxylase deficiency | list13 = Symptoms of Pyruvate carboxylase deficiencyCauses & Risk Factors for Pyruvate carboxylase deficiencyDiagnostic studies for Pyruvate carboxylase deficiencyTreatment of Pyruvate carboxylase deficiency

| group14 = Continuing Medical Education (CME) Programs on Pyruvate carboxylase deficiency | list14 = CME Programs on Pyruvate carboxylase deficiency

| group15 = International Resources on Pyruvate carboxylase deficiency | list15 = Pyruvate carboxylase deficiency en EspanolPyruvate carboxylase deficiency en Francais

| group16 = Business Resources on Pyruvate carboxylase deficiency | list16 = Pyruvate carboxylase deficiency in the MarketplacePatents on Pyruvate carboxylase deficiency

| group17 = Informatics Resources on Pyruvate carboxylase deficiency | list17 = List of terms related to Pyruvate carboxylase deficiency


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