Inborn errors of metabolism
Inborn errors of Amino acid metabolism can manifest at
any time but become most evident in infancy and early childhood. Specific
symptoms depend on the type of disorder. Affected patients may have failure to
thrive, neurological symptoms, digestive problems, and locomotor retardation.
If not diagnosed and treated promptly they can result in poor growth, developmental
delays, mental retardation, and death.
Test Code: LG175
Test Parameter: 48 Amino Acids; *1-Methyl-histidine*3-Methyl-histidine*AlphaAminoadipic
acid*Alpha Aminobutyric acid*Alanine*Anserine*Arginine*Arginosuccinic
acid*Asparagine*Aspartic acid *β-Alanine*Carnosine*Citrulline*Cystathionine*Cystine*Ethanolamine
*Glutamine*Glutamicacid*Glycine*Homocitrulline*Homocystine*Histidine*Hydroxylysine
*4 Hydroxyproline*Isoleucine*Leucine*Lysine*Methionine*Cysteine *Pipecolic acid
*Taurine
sulphate*Acetyltyrosine*Adenosylhomocysteine*Ornithine*Phosphoethanolamine*Phenylalanine
*Proline*Serine*Phosphoserine*Sarcosine*Saccharopine*Threonine*Tryptophan*Tyrosine*Valine**Gamma
Amino butyric acid* β--Amino-isobutyric acid
Method: LC-MS/MS
Sample Type: 2 mL (1 mL min.) plasma from 1 Green Top
(Sodium Heparin) tube. Transfer plasma into a sterile screw capped vial. Ship
refrigerated or frozen. Clinical details and drug history must accompany sample.
Temperature: Refrigerated
TAT / Reported on: Reported
on: 3rd working Day by 7:00 p.m.
Clinical details and drug history must accompany sample.