Selected disorders and relevant 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 |