Wat (wie) is pyruvate carboxylase deficiency - definitie
HUMAN DISEASE
Pyruvate carboxylase deficiency disease; Ataxia with Lactic Acidosis, Type II; PC deficiency; Deficiency of pyruvate carboxylase
Pyruvate dehydrogenase deficiency
CARBOHYDRATE METABOLIC DISORDER CHARACTERIZED BY THE BUILDUP OF LACTIC ACID IN THE BODY AND A VARIETY OF NEUROLOGICAL PROBLEMS AND CAUSED BY A DEFICIENCY OF ONE OF THE THREE ENZYMES IN THE PYRUVATE DEHYDROGENASE COMPLEX
Pyruvate dehydrogenase complex deficiency disease; Deficiency of pyruvate dehydrogenase
Pyruvate dehydrogenase deficiency (also known as pyruvate dehydrogenase complex deficiency or PDCD) is a rare neurodegenerative disorders associated with abnormal mitochondrial metabolism. PDCD is a genetic disease resulting from mutations in one of the components of the pyruvate dehydrogenase complex (PDC).
3-Methylcrotonyl-CoA carboxylase deficiency
3-Methylcrotonyl-CoA carboxylase deficiency also known as 3-Methylcrotonylglycinuria or BMCC deficiency is an inherited disorder in which the body is unable to process certain proteins properly. People with this disorder have inadequate levels of an enzyme that helps break down proteins containing the amino acid leucine.
Biotinidase deficiency
MULTIPLE CARBOXYLASE DEFICIENCY THAT INVOLVES A DEFICIENCY IN BIOTINIDASE
Carboxylase Deficiency, Multiple, Late-Onset
Biotinidase deficiency is an autosomal recessive metabolic disorder in which biotin is not released from proteins in the diet during digestion or from normal protein turnover in the cell. This situation results in biotin deficiency.
Wikipedia
Pyruvate carboxylase deficiency
Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid 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. Type A of the disease appears to be much more common in some Algonkian Indian tribes in eastern Canada, while the type B disease is more present in European populations.
