73701-5

LOINC 2.82

Multiple carboxylase deficiency (MCD) newborn screen interpretation

MCD DBS-Imp

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.

Component

  • Multiple carboxylase deficiency

Specimen / system

  • Bld.dot

Class

  • CHEM

Property

  • Imp

Scale

  • Nom

Related names

  • Blood; Chemistry; DBS; Dried blood spot; Filter paper; FP; Impression; Impression/interpretation of study; Impressions; Interp; Interpretation; MCD; Mult; Multi; Nominal; Point in time; Random; WB; Whole blood

Index terms

  • Blood
  • Chemistry
  • DBS
  • Dried blood spot
  • Filter paper
  • FP
  • Impression
  • Impression/interpretation of study
  • Impressions
  • Interp
  • Interpretation
  • MCD
  • Mult
  • Multi
  • Nominal
  • Point in time
  • Random
  • WB
  • Whole blood