X-linked adrenoleukodystrophy
Quick Summary
X-linked adrenoleukodystrophy (ALD) is a rare, inherited demyelinating disease affecting the central nervous system. It is passed down as a sex-linked recessive trait, primarily impacting males, often in childhood.12
The pathology of ALD involves progressive deterioration, characterized by symptoms such as blindness, deafness, tonic spasms, and mental decline. Because it is sex-linked, there is no direct father-to-son transmission of the condition. Females can be carriers, with a 50% chance of passing the gene to their children. Males inheriting the gene will manifest the trait, while daughters who receive it become carriers.12
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metabolic diseaseInheritance…ammonia and impaired urea formation), X-linked adrenoleukodystrophy (a disorder that is characterized by progressive mental and physical deterioration and adrenal insufficiency), and Lesch-Nyhan syndrome (a disorder of purine metabolism that is characterized by the excretion of large amounts of uric acid in the urine, neurological disturbances, and self-mutilation).
Read More…ammonia and impaired urea formation), X-linked adrenoleukodystrophy (a disorder that is characterized by progressive mental and physical deterioration and adrenal insufficiency), and Lesch-Nyhan syndrome (a disorder of purine metabolism that is characterized by the excretion of large amounts of uric acid in the urine, neurological disturbances, and self-mutilation).
Read More- metabolic diseasePeroxisomal disorders
One example is X-linked adrenoleukodystrophy (X-ALD), an insidious disorder in which affected individuals show normal early development. Between the ages of 4 and 8, behaviour problems including hyperactivity, aggressiveness, or poor school performance appear in affected boys. Children often lose speech, memory skills, and the ability to walk,…
Read MoreOne example is X-linked adrenoleukodystrophy (X-ALD), an insidious disorder in which affected individuals show normal early development. Between the ages of 4 and 8, behaviour problems including hyperactivity, aggressiveness, or poor school performance appear in affected boys. Children often lose speech, memory skills, and the ability to walk,…
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