Sandor Speciality Diagnostics
Biosciences Research Services

Organic Acid Disorders

Organic acids are key metabolites of all pathways of intermediary metabolism Organic acid analysis provides information on physiological and pathophysiological status Performed on random urine samples Helpful in systemic intoxication or acute encephalopathy (newborns and infants) sub acute neurological disease or multisystemic manifestations (older children)

  • Metabolic acidosis
  • Increased anion gap
  • Cytopenia
  • Hypoglycemia
  • Hyperammonemia
  • Lactic acidemia
  • Ketosis
  • Developmental delay
  • Epilepsy
  • mental retardation
  • extrapyramidal symptoms
  • pyramidal symptoms
  • cerebral atrophy
  • megalencephaly

Urine: Collect a random urine without preservative in screw cap container. Keep frozen until shipment on dry ice.

Volume: 5-10ml

Methodology: GC-MS

  • Canavan disease
  • Mitochondrial disorders
  • Short-chain acyl Co A dehydrogenase deficiency
  • MAD
  • Fumaric acidemia
  • Glutaryl CoA dehydrogenase deficiency
  • Neuroblastoma
  • 4-hydroxybutyric acidemia
  • Long chain 3-hydroxyacyl CoA dehydrogenase deficiency
  • Malonyl CoA decarboxylase deficiency
  • Methylmalonic aciduria
  • Propionic aciduria
  • 3-methylglutaconic acidemia
  • 3-oxothiolase deficiency
  • Orotic aciduria
  • Very long chain acyl CoA dehydrogenase
  • Tyrosinemia
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