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Definition

A neonatal form of multiple carboxylase deficiency, an autosomal recessive disorder of biotin metabolism, characterized by ketoacidosis, hyperammonemia, excretion of abnormal organic acid metabolites, and dermatitis. In holocarboxylase synthetase deficiency, clinical and biochemical symptoms improve dramatically with administration of biotin.

Acronym

HLCS deficiency

Synonyms

Biotin-responsive MCD
Biotin-responsive multiple carboxylase deficiency
Early-onset MCD
Early-onset multiple carboxylase deficiency
MCD neonatal form

 
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Main funding by: National Institutes of Health

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