Treatment of Multiple Carboxylase deficiency is
Correct Answer: Biotin
Description: Multiple carboxylase deficiencies is characterized by deficient activities of three biotin-dependent enzymes, propionyl coenzyme A carboxylase, pyruvate carboxylase, and beta-methylcrotonyl coenzyme A carboxylase. Multiple carboxylase deficiencies is a form of metabolic disorder involving failures of carboxylation enzymes. The deficiency can be in biotinidase or holocarboxylase synthetase. These conditions respond to biotin. Forms include Holocarboxylase synthetase deficiency - neonatal; Biotinidase deficiency - late onset; If left untreated, the symptoms can include feeding problems, hypotonia, generalized erythematous rash with skin exfoliation and alopecia, failure to thrive, seizure, coma, developmental delay, foul-smelling urine, metabolic acidosis, ketosis, and hyperammonemia.
Category:
Biochemistry
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