holocarboxylase synthetase deficiency
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.
MONDO:0100033
metabolic epilepsy
excluded_subClassOf
MONDO:0015454
multiple carboxylase deficiency
is_a
MONDO:0019242
inborn disorder of branched-chain amino acid metabolism
is_a
early-onset multiple carboxylase deficiency
exact
holocarboxylase synthase deficiency
exact
holocarboxylase synthetase deficiency
exact
multiple carboxylase deficiency
broad
neonatal multiple carboxylase deficiency
exact
SPBC30D10.07c