Multiple carboxylase deficiency
|Multiple carboxylase deficiency|
|Classification and external resources|
Multiple carboxylase deficiency is a form of metabolic disorder involving failures of carboxylation enzymes.
If left untreated, the symptoms can include feeding problems, decreased body tone, generalized red rash with skin exfoliation and baldness, failure to thrive, seizure, coma, developmental delay, foul smelling urine, lactic acidosis, and high levels of ketones and ammonia in the blood.
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