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Summary
ADRENOLEUKODYSTROPHY, X-LINKED
ADDISON DISEASE AND CEREBRAL SCLEROSIS ADRENOLEUKODYSTROPHY, X-LINKED ADDISON DISEASE AND CEREBRAL SCLEROSIS
300100
OMIM = Online Medalian Inheritance of Men
43
Xp28
  • baclofen
  • bone marrow transplantation
  • Lorenzos oil
  • phenylbutyrate
rare
X-linked recessive
USA: 1:42,000 (hemizygotes), 1:16,800 (hemizygotes plus heterozygotes) [Bezman et al. 2001] X-linked therapy: diet with Lorenzos oil - glycerol trioleate - glyceryl trierucate oil bone marrow transplantation (experimental)
symptoms
adrenal insufficiency
ataxia
behavior, abnormal or bizarre, confusion
behavior, hyperactive, restless
blindness, visual loss, visual impairment
dysarthria
dysphagia
epilepsy
eye defect beginning in infancy or childhood
hyperpigmentation
neurological deterioration
onset, adulthood
onset, childhood
seizures
spastic diplegia/quadriplegia
laboratory finding
C26:0/C22:00.200.800.010.02no unitplasma
C24:0/C22:01.903.500.500.90no unitplasma
C26:01.703.100.100.60-Ág/mlplasma
Pipecolic acid75.00800.0013.9044.70+Ôé¼mol/g creatinineurinenewborn
Pipecolic acid5.9030.000.805.30-Ámol/lplasma
C26:10.500.700.020.51-Ág/mlplasma
C26:00.440.610.050.21-Ág/mgfibroblasts
C26:0/C22:00.270.530.020.13no unitfibroblasts
Very-long-chain fatty acids increasedserum
MRI, brain, abnormalities -
Very-long-chain fatty acid oxidation
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