| oculocerebrorenal syndrome |
 |
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; 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)
[ Articles | Books | Images | Discussion groups ]
|
Send this page | Navigation Map