Rare Diseases Symptoms Automatic Extraction

Treatment of an adrenomyeloneuropathy patient with Lorenzo's oil and supplementation with docosahexaenoic acid--a case report.

[adrenomyeloneuropathy]

This is a case report of adrenomyeloneuropathy (AMN), the adult variant of adrenoleukodystryphy (ALD). The diagnoses in the patient, aged 34, was confirmed via increased serum very long chain fatty acid concentration (VLCFA). Treatment started with the cholesterol lowering drug, atorvastatin, followed by add-on therapy with Lorenzo's oil (LO) and finally supplementation with docosahexaenoic acid (DHA). The magnetic resonance imaging (MRI) scan of the AMN patient before DHA treatment, already showed abnormal white matter in the brain. Although the MRI showed no neurological improvement after 6 months of DHA treatment, no selective progression of demyelination was detected in the AMN patient. Contrary to what was expected, LO failed to sustain or normalize the VLCFA levels or improve clinical symptoms. It was however, shown that DHA supplementation in addition to LO, increased DHA levels in both plasma and red blood cells (RBC). Additionally, the study showed evidence that the elongase activity in the elongation of eicosapentaenoic acid (EPA) to docosapentaenoic acid (DPA) might have been significantly compromised, due to the increased DHA levels.

Diseases presenting "blood cells" symptom

  • adrenomyeloneuropathy
  • alpha-thalassemia
  • cadasil
  • cholangiocarcinoma
  • classical phenylketonuria
  • cutaneous mastocytosis
  • erdheim-chester disease
  • erythropoietic protoporphyria
  • heparin-induced thrombocytopenia
  • homocystinuria without methylmalonic aciduria
  • junctional epidermolysis bullosa
  • lamellar ichthyosis
  • lymphangioleiomyomatosis
  • monosomy 21
  • neonatal adrenoleukodystrophy
  • oral submucous fibrosis
  • scrub typhus
  • triple a syndrome
  • von hippel-lindau disease
  • waldenström macroglobulinemia
  • x-linked adrenoleukodystrophy
  • zellweger syndrome

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