92672-5

LOINC 2.82

Hydroxyglutarates and glutarate and ethylmalonate and methylsuccinate panel - DBS

Gluts + Eth + Meth Pnl DBS

Definition

  • This panel is used to follow up out of range C4-acylcarnitine and glutarylcarnitine newborn screening results. The pattern of results for the individual analytes helps differentiate between short-chain Co-A dehydrogenase (SCAD) deficiency, isobutyryl-CoA dehydrogenase (IBDH) deficiency, and ethylmalonic encephalopathy, as well as glutaric acidemia type I (GA-1) and glutaric acidemia type II (GA-2).

Component

  • Hydroxyglutarates & Glutarate & Ethylmalonate & Methylsuccinate panel

Specimen / system

  • Bld.dot

Class

  • PANEL.CHEM

Property

  • -

Scale

  • Qn

Related names

  • 2-Methylsuccinic acid; Blood; Chemistry; DBS; Dried blood spot; EMA; Ethylmalonic acid; Filter paper; FP; Glutarates + ethylmalonate + methylsuccinate pnl; Glutaric acid; Me-succinate; Methylsuccinic acid; Pan; PANEL.CHEMISTRY; Panl; Pentanedioiate; Pentanedioic acid; Pnl; Point in time; Pyrotartaric acid; QNT; Quan; Quant; Quantitative; Random; WB; Whole blood

Index terms

  • 2-Methylsuccinic acid
  • Blood
  • Chemistry
  • DBS
  • Dried blood spot
  • EMA
  • Ethylmalonic acid
  • Filter paper
  • FP
  • Glutarates + ethylmalonate + methylsuccinate pnl
  • Glutaric acid
  • Hydroxyglutarates & Glutarate & Ethylmalonate & Methylsuccinate panel
  • Me-succinate
  • Methylsuccinic acid
  • Pan
  • PANEL.CHEMISTRY
  • Panl
  • Pentanedioiate
  • Pentanedioic acid
  • Pnl
  • Point in time
  • Pyrotartaric acid
  • QNT
  • Quan
  • Quant
  • Quantitative
  • Random
  • WB
  • Whole blood