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Biochemical diagnosis of beta-oxidation deficiency (metabolite analysis)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 25/06/2009
  • Laboratorio per lo Studio degli Errori Congeniti del Metabolismo
  • U.O.C. Clinica Pediatrica ed Endocrinologia
  • IRCCS Istituto G. Gaslini - Ospedale Pediatrico
  • Largo Gerolamo Gaslini 5
  • 16147 GENOVA
  • ITALY
  • Director of laboratory : Dr Ubaldo CARUSO
  • More information
  • Phone : 39 010 56362406
  • Additional Phone : 39 010 56362582
  • Fax : 39 010 3773210
  • Website
  • Contact
Last update: June 2009

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Biochemical genetics
Analyte / Enzyme assay
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List of diseases and genes

List of diseases tested (14)
3-hydroxy-3-methylglutaric aciduria
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Beta-ketothiolase deficiency
Carnitine palmitoyl transferase 1A deficiency
Carnitine palmitoyltransferase II deficiency
Carnitine-acylcarnitine translocase deficiency
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Medium chain acyl-CoA dehydrogenase deficiency
Mitochondrial disease
Mitochondrial trifunctional protein deficiency
Multiple acyl-CoA dehydrogenase deficiency
Short chain acyl-CoA dehydrogenase deficiency
Systemic primary carnitine deficiency
Very long chain acyl-CoA dehydrogenase deficiency
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.