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[Lowe's syndrome]. 1994

M Grałek, and B Bogorodzki, and J Czajkowski, and S Grałek
Oddziału Okulistyki Centrum Zdrowia Matki Polki, Lodzi.

The authors described symptoms of oculocerebral Lowe's syndrome and presented a case of this disease. It concerned a 3-week old baby with congenital cataract, hyperaminoaciduria and increasing mental and psychomotor retardation. During 16-month observation, local and general symptoms typical of Lowe's syndrome appeared.

UI MeSH Term Description Entries
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008297 Male Males
D009800 Oculocerebrorenal Syndrome A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8) Cerebrooculorenal Syndrome,Lowe Syndrome,Cerebro-Oculo-Renal Syndrome,Lowe Disease,Lowe Oculocerebrorenal Syndrome,Lowe-Bickel Syndrome,Lowe-Terrey-MacLachlan Syndrome,Oculocerebrorenal Dystrophy,Oculocerebrorenal Syndrome of Lowe,Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency,Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency,Renal-Oculocerebrodystrophy,Cerebro Oculo Renal Syndrome,Deficiency, Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase,Dystrophy, Oculocerebrorenal,Lowe Bickel Syndrome,Lowe Terrey MacLachlan Syndrome,Phosphatidylinositol 4,5 Bisphosphate 5 Phosphatase Deficiency,Renal Oculocerebrodystrophy
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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