About The Medical Condition Dystrophies, Oculocerebrorenal
Find the definition of the medical term Dystrophies, Oculocerebrorenal. Dystrophies, Oculocerebrorenal defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Dystrophies, Oculocerebrorenal
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What's The Definition Of The Medical Condition Dystrophies, Oculocerebrorenal?
A sex-linked recessive disorder of amino acid transport which affects the EYE; NERVOUS SYSTEM; and KIDNEY. Clinical manifestations include CATARACT; GLAUCOMA; developmental delay (which eventually leads to profound cognitive deficits); myopathy; peripheral neuropathy; and hypotonia. There is an associated generalized aminoaciduria of the FANCONI SYNDROME type; renal tubular acidosis (ADIDOSIS, RENAL TUBULAR); and hypophosphatemic RICKETS. This condition has been associated with deficient activity of the enzyme phosphatidylinositol 4,5-bisphosphate-5-phosphatase. (Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8)
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