/holocarboxylase synthetase deficiency

holocarboxylase synthetase deficiency

Rare Disease

MONDO:0009666

Also Known As

multiple carboxylase deficiencybiotin-(propionyl-CoA-carboxylase) ligase deficiencyearly-onset multiple carboxylase deficiencyholocarboxylase synthase deficiencyholocarboxylase synthetase deficiencymultiple carboxylase deficiency - neonatal onsetneonatal multiple carboxylase deficiencyHLCS deficiencymultiple carboxylase deficiency, early onsetmultiple carboxylase deficiency, neonatal form

Definition

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.