73701-5
LaboratoryMultiple carboxylase deficiency (MCD) newborn screen interpretation
Definition
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.
LOINC 6-Axis Classification
Component
Multiple carboxylase deficiency
Property
Imp
Time Aspect
Pt
System
Bld.dot
Scale Type
Nom
Method Type
N/A
Details
Class
CHEM
Order/Observation
Observation
Short Name
MCD DBS-Imp
Display Name
Multiple carboxylase deficiency (MCD) (DBS) [Interp]
Related Names
Frequently Asked Questions
What is LOINC code 73701-5?
LOINC code 73701-5 identifies "Multiple carboxylase deficiency (MCD) newborn screen interpretation". 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.
What does 73701-5 measure?
This code measures Multiple carboxylase deficiency in Bld.dot. It belongs to the CHEM class in the LOINC classification.
What is LOINC?
LOINC (Logical Observation Identifiers Names and Codes) is a universal standard for identifying laboratory and clinical observations. It is maintained by the Regenstrief Institute and used worldwide for health data exchange.