Carboxylase defect, multiple D81.8

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Definition
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Rare autosomal recessive disease with a defect of the holocarboxylase synthetase, which already occurs in newborns.

Etiopathogenesis
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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.

Clinical features
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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.

Therapy
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Biotin 10-40 mg/day p.o.

Literature
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  1. 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
  2. Sweetman L, Nyhan WL (1986) Inheritable biotin-treatable disorders and associated phenomena. Ann Rev Nutr 6: 317-343
  3. 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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Last updated on: 29.10.2020