LOWE DISEASE
\lˈə͡ʊ dɪzˈiːz], \lˈəʊ dɪzˈiːz], \l_ˈəʊ d_ɪ_z_ˈiː_z]\
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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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Quinones
- Hydrocarbon rings which contain two moieties position. They can be substituted in any position except at the ketone groups.