multiple carboxylase deficiency
Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay.
MONDO:0005093
skin disorder
excluded_subClassOf
MONDO:0019214
inborn carbohydrate metabolic disorder
is_a
MONDO:0019215
classic organic aciduria
is_a
MONDO:0020698
inborn error of biotin metabolism
is_a
MCD
exact
multiple carboxylase deficiency
exact
SPBC30D10.07c