ADRENOLEUKODYSTROPHY, X-LINKED

Question 1

What is  ADRENOLEUKODYSTROPHY, X-LINKED?

Accepted Answer

rare (1:17000)
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)

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Adrenoleukodystrophie, X-chromosomale

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 300100

Question 4

Which enzymes are involved?

Accepted Answer

ATP-binding cassette sub-family D member 1

Disease	ADRENOLEUKODYSTROPHY, X-LINKED
Synonym	ADDISON DISEASE AND CEREBRAL SCLEROSIS; ADRENOLEUKODYSTROPHY, X-LINKED; ADDISON DISEASE AND CEREBRAL SCLEROSIS
OMIM	300100 OMIM = Online Mendelian Inheritance of Men
Orphanet	43
Protein (UniProt)	ATP-binding cassette sub-family D member 1
Gene locus	Xp28
ICD	E71.3
Summary	rare (1:17000) 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)
Laboratory findings	C24:0/C22:0 inc (plasma) C26:0 inc (plasma) C26:0 inc (fibroblasts) C26:0/C22:0 inc (plasma) C26:0/C22:0 inc (fibroblasts) Hexacosenoic acid C26:1 inc (plasma) Pipecolic acid inc (plasma) Pipecolic acid inc (urine) Very-long-chain fatty acid oxidation () Very-long-chain fatty acids inc (serum)
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 leukodystrophy MRI, brain, abnormalities [-] neurological deterioration onset, adulthood onset, childhood seizures spastic diplegia/quadriplegia/tetraplegia