DefinitionThis section has been translated automatically.
EtiopathogenesisThis section has been translated automatically.
Autosomal recessive inherited disease (mutations of the HLCS gene; gene locus: 21q22.1). Pathogenetically, a deficiency in the enzyme activity of pyruvate, propionyl-CoA and 3-methylcrotonyl-CoA carboxylase causes disturbances in the breakdown of carbohydrates and the amino acids leucine, isoleucine, valine, threonine and methionine.
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Clinical featuresThis section has been translated automatically.
Severe, episodically occurring exanthema (erythematous, eczematous, possibly weeping); alopecia possible, acidosis (organoaciduria, vomiting, dehydration, tachypnea). Tendency to leukopenia or monocytopenia, disturbance of T-lymphocyte function. In severe cases, ataxia, convulsions and CT changes of the brain similar to leukodystrophy still occur.
TherapyThis section has been translated automatically.
LiteratureThis section has been translated automatically.
- Narang MA et al (2004) Reduced histone biotinylation in multiple carboxylase deficiency patients: a nuclear role for holocarboxylase synthetase. Hum Mol Genet 13: 15-23
- Sweetman L, Nyhan WL (1986) Inheritable biotin-treatable disorders and associated phenomena. Ann Rev Nutr 6: 317-343
- Thoene J, Baker H, Yoshino M, Sweetman L (1979) Biotin-responsive carboxylase deficiency with subnormal plasma and urinary biotin. New Engl J Med 304: 817-820
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