CEREBROOCULORENAL SYNDROMES
\səɹˈiːbɹuːkjˌʊlɔːnə͡l sˈɪndɹə͡ʊmz], \səɹˈiːbɹuːkjˌʊlɔːnəl sˈɪndɹəʊmz], \s_ə_ɹ_ˈiː_b_ɹ_uː_k_j_ˌʊ_l_ɔː_n_əl s_ˈɪ_n_d_ɹ_əʊ_m_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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Procollagen Proline Dioxygenase
- mixed-function oxygenase that catalyzes hydroxylation prolyl-glycyl-containing-peptide, usually in protocollagen, hydroxyprolylglycyl-peptide. The enzyme utilizes molecular oxygen with a concomitant oxidative decarboxylation of 2-oxoglutarate to succinate. EC 1.14.11.2.