Selected disorders and tests
|
Disorder |
Sample |
Test |
|---|---|---|
|
Adrenoleucodystrophy |
Plasma |
Very long chain fatty acids (VLCFA) |
|
Antiquitin deficiency (pyridoxine responsive seizures) |
Urine |
Piperideine-6-carboxylate (part of metabolic profile) |
|
Arginine:glycine amidinotransferase (AGAT) |
Plasma & Urine |
Creatine and Guanidinoacetate |
|
Alkaptonuria |
Urine |
Organic acid profile – homogentisic acid |
|
Creatine transporter defect (X-linked) |
Urine |
Creatine and Guanidinoacetate (part of metabolic profile) |
|
Canavan's disease |
Urine |
Organic acid profile – N-acetylaspartic acid |
|
Congenital Disorders of Glycosylation |
Serum |
Transferrin Isoform analysis |
|
Cystinosis |
White cell pellet |
White cell cystine |
|
Fatty acid oxidation defects during an episode or interval sample |
Plasma |
Acylcarnitine profile |
|
Urine |
Organic acid profile, Acylglycines |
|
|
Guanidinoacetate methyltransferase (GAMT) |
Plasma & Urine |
Creatine and Guanidinoacetate |
|
Gyrate atrophy |
Urine |
Amino acid quantitation - ornithine (part of metabolic profile) |
|
Gyrate atrophy |
Plasma |
Amino acid quantification - ornithine |
|
Lesch-Nyhan syndrome |
Urine |
Hypoxanthine and Xanthine (part of metabolic profile) |
|
Tyrosinaemia Type I |
Urine |
Organic acid profile - succinylacetone |
|
Homocysteinaemia |
Plasma |
Homocysteine, total |
|
4-Hydroxybutyric aciduria |
Urine |
Organic acid profile -4-hydroxybutyrate |
|
Hypophosphatasia |
Urine or Plasma |
Amino acid quantification - phosphoethanolamine |
|
Hypophosphatasia |
Plasma |
Alkaline phosphatase |
|
LCHAD deficiency |
Fibroblast cell line |
LCHAD specific assay |
|
Maple Syrup Urine Disease |
Plasma |
Quantitation of branched chain amino acids |
|
MCAD deficiency |
Plasma |
Carnitine |
|
Urine |
Acylglycines |
|
|
Methylmalonic acidaemia |
Urine |
MMA Screen |
|
Plasma |
Quantification of MMA |
|
|
Molybdenum co-factor deficiency |
Serum |
Uric acid |
|
Molybdenum co-factor deficiency |
Urine or Plasma |
S-Sulphocysteine |
|
MPS disorders |
Urine |
DMB screen/ GAG tandem mass spectrometry |
|
Whole Blood |
Specific enzyme assay (Adelaide W&CH) |
|
|
Nonketotic hyperglycinaemia |
Plasma & CSF |
Amino acid quantification - glycine |
|
Ornithine carbamoyltransferase (OTC) hemizygote |
Urine |
Orotic acid (part of metabolic profile) |
|
Plasma |
Amino acid quantification - glutamine & citrulline |
|
|
Peroxisomal disorders including Zellweger syndrome |
Plasma |
Very long chain fatty acids (VLCFA) |
|
Succinate semialdehyde dehydrogenase deficiency |
Urine |
Organic acid profile -4-hydroxybutyrate |
|
Smith-Lemli-Opitz (SLO) syndrome |
Plasma |
7-Dehydrocholesterol (7DHC) |
|
Urea cycle disorders |
Plasma |
Amino acid quantitation and ammonia |
|
Urine |
Amino acid and organic acid profile |