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Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database 10842 glutamyl ribose-5-phosphate storage disease Eponyms: Inheritance: ADP-ribose protein hydrolase deficiency X-linked recessive Semeiological Facio-neuro-oculo-urological disorder. Coarse facies, mental retardation, seizures, hypotonia, weakness, proteinuria, renal failure, optic atrophy. Synthesis: Group Sub group Signs: LABORATORY DATA biochemical markers metabolic defect chromosomal assignment chromosome X localization plasma nonprotein-organic constituents, anomalies glutamyl ribose 5 phosphate, high levels tissue, biochemical changes ADA-ribose protein hydrolase, low activity glycoprotein, degradation oligosaccharidoses, disorders of glycosylation lysosomal disorders metabolic acidosis, ketonuria, ketosis, ketonemia, ketoacidosis urine, constituent changes proteinuria, albuminuria MUSCULAR DISEASES systemic muscular defects hypotonia, muscular weakness, muscular hypoplasia, myastenia, not including atyrophy NEUROLOGICAL DISORDERS mental retardation mental retardation neurological dysfunctions seizures, convulsions, epilepsy performance changes, not including mental retardation stupor, lethargy, including coma OCULAR DISORDERS optical nerve defects optic atrophy OROCRANIOFACIAL ANOMALIES facies, modified appearance dysmorphic face facies, coarse OTHERS inheritance inheritance, X-linked recessive UROLOGICAL DISORDERS renal dysfunctions nephrosis renal failure, including: nephritis, pyelonephritis, glomerulonephritis Super group: dysmorphic face-mental retardation dysmorphic face-mental retardation: metabolic disorders facio-neuro-ocular disorders neuro-urological disorders oculo-urological disorders glutamyl ribose-5-phosphate storage disease Page 1 of 2 Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database Super aggreg. METABOLIC DISORDERS glycoprotein, degradation oligosaccharidoses, disorders of glycosylation Aggregations: lysosomal disorders metabolic acidosis, ketonuria, ketosis, ketonemia, ketoacidosis OTHER dysmorphic face Differential diagnosis: Bibliography 175 12580 6184 18785 22395 ATIC deficincy hydroxyprolinemia microcoria-congenital nephrosis syndrome oculo-reno-cerebellar syndrome renal sclerosis-ocular abnormalities syndrome OMIM ID: 305920 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.747766,2007 glutamyl ribose-5-phosphate storage disease Page 2 of 2
