Sandor Speciality Diagnostics
Biosciences Research Services

Peroxysomal disorders

Disorders associated with defect either in the synthesis or function of peroxysomes.

    Clinical features are overlapping. The most prominent being

  • Adrenal insufficiency
  • Attention deficit hyperactivity
  • Auditory and visual problems
  • Tetraparesis
  • Ataxia
  • Seizures
  • Respiratory tract infections
  • Shortening of bones
  • Anosmia
  • Dry skin
  • Hypotonia
  • Craniofacial abnormalities
  • Psychomotor retardation
  • Hepatomegaly
  • Renal cyst
  • Apnea
  • Frontal bossing
  • Punctate lesions
  • Death

Very long chain fatty acid analysis & plasmalogen estimation using GC-MS analysis helps in differential diagnosis

Blood: 4-5 ml whole blood collected in heparin/EDTA vaccutainer can be centrifuged at 3000 RPM to separate plasma and RBC portions. Plasma will be used for very long chain fatty acid analysis. RBC portion can be used for plasmalogens.

TAT: 2 weeks(post-natal)

Sample storage: -20℃ for plasma and 4℃ for whole blood (before transport)

Transport: < 20℃ (with ice/gel packs for whole blood), dry ice (for plasma)

  • Zellweger syndrome
  • Neonatal adreno leukodystrophy
  • X-linked Adreno leukodystrophy
  • Bifunctional protein deficiency
  • Refsum disease
  • Rhizomelic chondrodysplasia punctata
To Top