Condition Description: Each of the disorders is caused by a deficiency of the relevant enzyme. In most of the disorders, the substrate, for which the enzyme is named, accumulates as do its potentially toxic metabolites.
YOU SHOULD TAKE THE FOLLOWING ACTIONS:
Confirmatory tests include urine organic acids on infant and mother, plasma acylcarnitine analysis, and serum biotinidase assay. The organic acids analysis on infant and mother should clarify the differential except for holocarboxylase synthetase deficiency and biotinidase deficiency (the latter clarified by biotinidase assay).
The neonate is usually asymptomatic in 3MCC deficiency. However, episodic hypoglycemia, lethargy, hypotonia, and mild developmental delay can occur at any time from the neonatal period through childhood for any of these disorders. There is beneficial treatment that is specific to each condition.