X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.

[x-linked adrenoleukodystrophy]

X-linked adrenoleukodystrophy (X-ALD ) is the most common peroxisomal disorder . The disease is caused by mutations in the ABCD 1 gene that encodes the peroxisomal membrane protein ALDP which is involved in the transmembrane transport of very long -chain fatty acids (VLCFA ; ≥ C 2 2 ). A defect in ALDP results in elevated levels of VLCFA in plasma and tissues . The clinical spectrum in males with X-ALD ranges from isolated adrenocortical insufficiency and slowly progressive myelopathy to devastating cerebral demyelination . The majority of heterozygous females will develop symptoms by the age of 60 years . In individual patients the disease course remains unpredictable . This review focuses on the diagnosis and management of patients with X-ALD and provides a guideline for clinicians that encounter patients with this highly complex disorder .

Diseases
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Diseases presenting "elevated levels" symptom

22q11.2 deletion syndrome

adrenal incidentaloma

adrenomyeloneuropathy

alexander disease

aniridia

cadasil

canavan disease

congenital adrenal hyperplasia

epidermolysis bullosa simplex

erythropoietic protoporphyria

esophageal carcinoma

fabry disease

familial hypocalciuric hypercalcemia

hereditary cerebral hemorrhage with amyloidosis

inclusion body myositis

kabuki syndrome

omenn syndrome

phenylketonuria

primary effusion lymphoma

pyruvate dehydrogenase deficiency

scrub typhus

sneddon syndrome

werner syndrome

wiskott-aldrich syndrome

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

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