OCULOCEREBRORENAL SYNDROME
\ˈɒkjʊlˌə͡ʊsɹɪbɹˌɔːnə͡l sˈɪndɹə͡ʊm], \ˈɒkjʊlˌəʊsɹɪbɹˌɔːnəl sˈɪndɹəʊm], \ˈɒ_k_j_ʊ_l_ˌəʊ_s_ɹ_ɪ_b_ɹ_ˌɔː_n_əl s_ˈɪ_n_d_ɹ_əʊ_m]\
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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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Platidiam
- An inorganic water-soluble platinum complex. After undergoing hydrolysis, it reacts DNA produce both intra interstrand crosslinks. These crosslinks appear to impair replication and transcription of DNA. The cytotoxicity cisplatin correlates with cellular arrest in G2 phase cell cycle.