E71.52

X-linked adrenoleukodystrophy

A rare metabolic disorder characterized by damage of the myelin sheaths in the nervous system and degeneration of the adrenal glands. It leads to progressive neurologic disorders, adrenal insufficiency and death.

A syndrome combining the characteristics of adrenocortical insufficiency addison disease) with those of cerebral sclerosis schilder disease). Skin bronzing and sclerosis of the brain and demyelination are the principal manifestations.

An x-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the lysosomes of adrenal cortex and the white matter of central nervous system. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ataxia; neurobehavioral manifestations; hyperpigmentation; adrenal insufficiency; seizures; muscle spasticity; and dementia. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene abcd1 is located at xq28, and encodes the adrenoleukodystrophy protein atp-binding cassette transporters).

Childhood genetic disease, transmitted as an x-linked recessive trait, characterized by diffuse abnormality of cerebral white matter and adrenal atrophy; mental deterioration progresses to dementia, aphasia, apraxia, dysarthria, and loss of vision.

E71.52 should not be used for reimbursement purposes as there are multiple codes below it that contain a greater level of detail.

This is the American ICD-10-CM version of E71.52 – other international versions of ICD-10 E71.52 may differ.