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Copyright V. Ventruto / A. Di Luccio Genus database 20750 phenylketonuria II Eponyms: Inheritance: DHPR dihydropteridine reductase deficiency malignant hyperphenylalaninaemia PKU atypical QDPR quinoid dihydropteridine reductase deficiency autosomal recessive Semeiological Metabolic-muscular-neurologic disorder. Severe muscular hypotonia, seizures, mental retardation, other neurological disorders. Synthesis: Group Sub group Signs: GASTROINTESTINAL DISORDERS intestinal dysfunctions vomit LABORATORY DATA biochemical markers metabolic defect chromosomal assignment chromosome 4p localization foetal-amniotic biochemical data dihydropteridine reductase, low activity (foetal) pterins (foetal) gene, structural-functional anomalies gene analysis-DNA analysis QDPR (DHPR) quinoid dihydropteridine reductase, gene chr.4p15.31 plasma nonprotein-organic constituents, anomalies amino acid disorders Aminoacidemia, neutral aminoacids neutral aromatic Phe,Tyr neutral aromathic aminoacids phenylalanine, high levels plasma proteins, anomalies d-glycerate kinase deficiency tissue, biochemical changes dihydropteridin reductase , low activity MUSCULAR DISEASES systemic muscular defects hypotonia, muscular weakness, muscular hypoplasia, myastenia, not including atyrophy limpness, severe hypotonia muscular dystrophy, myopathy NEUROLOGICAL DISORDERS basal ganglia, disorders myoclonus, including jerks brain anomalies intracranial calcification (calcinosis) including: basal ganglia, falx cerebri calcification mental retardation mental retardation neurological dysfunctions seizures, convulsions, epilepsy OTHERS inheritance inheritance, autosomal recessive PRENATAL-NEONATAL MODIFIED DATA phenylketonuria II Page 1 of 2 Copyright V. Ventruto / A. Di Luccio Genus database foetal changes floppy baby foetal changes, recognized by laboratory data prenatal diagnosis prenatal diagnosis, metabolic prenatal diagnosis, molecular Super group: Super aggreg. FOETAL CHANGES foetal changes, recognized by laboratory data Aggregations: METABOLIC DISORDERS amino acid disorders MUSCULAR DISORDERS muscular dystrophy, myopathy OTHER floppy baby Differential diagnosis: Bibliography phenylketonuria II 20770 20740 20760 9262 phenylketonuria atypical severe phenylketonuria I phenylketonuria III Salomons syndrome OMIM ID: 261630 Annuario Orphanet-Italia delle Malattie Rare 2005, pag. 255, 367, 443 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.21592164,2007 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.708709,2007 Page 2 of 2
