" /> Multiple carboxylase deficiency:Imp:Pt:Bld.dot:Nom: - CISMeF





Preferred Label : Multiple carboxylase deficiency:Imp:Pt:Bld.dot:Nom:;

LOINC status : ACTIVE;

LOINC display name : Multiple carboxylase deficiency (MCD) (DBS) [Interp];

LOINC long common name : Multiple carboxylase deficiency (MCD) newborn screen interpretation;

LOINC short name : MCD DBS-Imp;

LOINC description : Multiple carboxylase deficiency (MCD), also known as holocarboxylase synthetase deficiency, is an inherited disorder in which the body is unable to use the vitamin biotin effectively. It is caused by mutations in the HLCS gene and has an autosomal recessive pattern of inheritance. This observation indicates whether the newborn screen was in-range or out-of-range for the analytes related to multiple carboxylase deficiency.;

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07/05/2025


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