(MCD, holocarboxylase synthetase) Multiple carboxylase deficiency
Also known as: HCSD (HOLOCARBOXYLASE SYNTHETASE DEFICIENCY)
DOES HCSD GO BY ANY OTHER NAMES?
HCSD is sometimes also called:
Multiple carboxylase deficiency, early-onset
Infant multiple carboxylase deficiency
MCD, neonatal form
Early onset combined carboxylase deficiency
A deficiency of biotin, part of the Vitamin B complex, leading to multiple carboxylase deficiency. Incidence is 1 in 87,000. Symptoms include seizures, hypotonia, immune system impairment, skin rashes, hair loss, hearing loss and mental retardation. Treatment is oral biotin supplementation, which should be begun immediately upon diagnosis.