Clinical profile of adrenoleukodysrophy.
X-linked Adrenoleukodystrophy (ALD) is the most common of the peroxisomal disorder and is associated with functional defect of the very long chain fatty acid (VLCFA) oxidation leading to the accumulation of VLCFA in the white matter and adrenal cortex. Retrospective evaluation of medical records of ALD patients were carried out. In all the 5 patients the duration of the symptoms varied from 1-7 years. Most of them presented with Addisonian crisis (4/5) and hyperpigmentation (5/5), white half of them (3/5) had neurological symptoms. All patients had biochemical evidence of the adrenal insufficiency. All siblings of patients should be screened for the possibility of ALD with VLCFA.
Acharya
Shrikrishna V
SV
Department of Endocrinology, Seth GS Medical College and KEM Hospital, Mumbai, India. drshri23@rediffmail.com
Gopal
Raju A
RA
Bandgar
Tushar R
TR
Joshi
Shashank R
SR
Menon
Padma S
PS
Shah
Nalini S
NS
D000224:Addison Disease / Q000209:etiology / Q000503:physiopathology*; D000305:Adrenal Cortex Hormones / Q000627:therapeutic use; D000324:Adrenocorticotropic Hormone / Q000097:blood; D000326:Adrenoleukodystrophy / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy* / Q000235:genetics; D001774:Blood Chemical Analysis; D002648:Child; D002675:Child, Preschool; D005230:Fatty Acids, Nonesterified / Q000378:metabolism*; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D012189:Retrospective Studies; D018570:Risk Assessment; D012494:Sampling Studies; D012720:Severity of Illness Index; D016896:Treatment Outcome
D000305:Adrenal Cortex Hormones; D005230:Fatty Acids, Nonesterified; D000324:Adrenocorticotropic Hormone