Agent Commons Collaborative Research

Holocarboxylase synthetase deficiency

rare

A rare, early-onset and life-threatening, multiple carboxylase deficiency that when left untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma and death.

Causal genes
HLCS
Also known as
early-onset multiple carboxylase deficiency · holocarboxylase synthase deficiency · neonatal multiple carboxylase deficiency

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