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Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database 5710 citrullinemia, neonatal onset type I argininosuccinate synthetase deficiency argininosuccinic acid synthetase deficiency ASAS deficiency citrullinuria Eponyms: Inheritance: autosomal recessive Semeiological Metabolic-gastrointestinal-neurological disorder. Severe vomiting, poor sucking, mental retardation, early onset ammonia intoxication, lethargy, hepatomegaly, hypotonia, apnea, seizures. Synthesis: Group Sub group Signs: GASTROINTESTINAL DISORDERS intestinal dysfunctions malabsorption, including diarrhea vomit LABORATORY DATA biochemical markers metabolic defect chromosomal assignment chromosome 9q localization foetal-amniotic biochemical data arginonosuccinate synthetase, low activity (foetal) citrulline foetal gene, structural-functional anomalies ASS argininosuccinate synthetase, gene chr.9q34 gene analysis-DNA analysis plasma electrolytes-inorganic constituents, modified functions hyperammonemia plasma nonprotein-organic constituents, anomalies amino acid disorders aminoacidemia, basic ammonia , high levels; hyperammonemia urea cycle disorders plasma proteins, anomalies citrulline, high levels tissue, biochemical changes ASAS , low activity lethality, in metabolic/immunological/environmental disorders metabolic alkalosis urine, constituent changes aminoaciduria citrullinuria orotic acid crystalluria, high levels MUSCULAR DISEASES systemic muscular defects hypotonia, muscular weakness, muscular hypoplasia, myastenia, not including atyrophy NEUROLOGICAL DISORDERS mental retardation mental retardation neurological dysfunctions enuresis, nocturnal seizures, convulsions, epilepsy citrullinemia, neonatal onset type I Page 1 of 2 Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database performance changes, not including mental retardation stupor, lethargy, including coma OTHERS inheritance inheritance, autosomal recessive PRENATAL-NEONATAL MODIFIED DATA foetal changes foetal changes, recognized by laboratory data prenatal diagnosis prenatal diagnosis, metabolic prenatal diagnosis, molecular SKELETAL DISORDERS stature, growth, modified habitus growth delayed, failure to thrive, growth retardation Super group: intestinal-neuro disorders Super aggreg. FOETAL CHANGES foetal changes, recognized by laboratory data Aggregations: LETHALITY lethality, in metabolic/immunological/environmental disorders vomit, lethargy, hypotonia, other features including some metabolic defects without dysmorphism/malform METABOLIC DISORDERS amino acid disorders metabolic alkalosis urea cycle, disorders 230 2120 7784 7785 12577 12610 14322 Differential diagnosis: 14321 14755 144 19270 19360 19361 Bibliography acid phosphatase deficiency argininosuccinic aciduria citrullinemia, adult onset type II citrullinemia, neonatal-onset type II hydroxyisobutyryl-CoA deacylase deficiency hyperammonemia I lactic acidemia X-lipoyl containing component defect lactic acidemia-E2 lipoyl transacetylase defect leukodystrophy perinatal sudanophilic Maniura syndrome ornithine transcarbamylase deficiency oroticaciduria I oroticaciduria II OMIM ID: 215700 OMIM ID: 603470 Annuario Orphanet-Italia delle Malattie Rare 2005, pag. 188 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.21822183,2007 citrullinemia, neonatal onset type I Page 2 of 2
