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Copyright V. Ventruto / A. Di Luccio Genus database 16470 methylmalonicaciduria vitamin B12-responsive I Eponyms: Inheritance: adenosyl-cobalamin-cbl A synthesis defect cblA adenosyl-cobalamin synthesis defect autosomal recessive Semeiological Metabolic disorder, isolated defect. Mental retardation, typical metabolic changes due to adenosyl-cobalamincbl A synthesis defect. Synthesis: Group Sub group Signs: GASTROINTESTINAL DISORDERS liver dysfunctions, liver anomalies hepatomegaly, liver enlarged LABORATORY DATA biochemical markers metabolic defect chromosomal assignment chromosome 4q localization foetal-amniotic biochemical data adenosyl-cobalamin biosynthesis (foetal) methylmalonate (foetal) methylmalonic acid (foetal) gene, structural-functional anomalies gene analysis-DNA analysis MMAA, gene chr.4q31.1-q31.2 granulocytes, changes granulocytes, reduction absence, neutropenia plasma electrolytes-inorganic constituents, modified functions hyperammonemia plasma nonprotein-organic constituents, anomalies organic acids, high levels vitamins, disorders plasma proteins, anomalies tetrahydrobiopterin defect tissue, biochemical changes adenosyl cobalamin-cobalamin A synthesis, defect metabolic acidosis, ketonuria, ketosis, ketonemia, ketoacidosis urine, constituent changes methylcitrate methylglutaconicaciduria methylmalonate non-protein organic constituents NEUROLOGICAL DISORDERS basal ganglia, disorders dystonia mental retardation mental retardation 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 methylmalonicaciduria vitamin B12-responsive I Page 1 of 2 Copyright V. Ventruto / A. Di Luccio Genus database prenatal diagnosis, metabolic SKELETAL DISORDERS bones, lesions, structural changes bone, fractures not including: fractures in utero osteoporosis Super group: Super aggreg. FOETAL CHANGES foetal changes, recognized by laboratory data Aggregations: METABOLIC DISORDERS metabolic acidosis, ketonuria, ketosis, ketonemia, ketoacidosis vitamin disorders Differential diagnosis: Bibliography 16460 methylmalonicaciduria III 16471 methylmalonicaciduria vitamin B12responsive II 19360 oroticaciduria I 19361 oroticaciduria II 7676 Rabier disease OMIM ID: 251100 OMIM ID: 607481 Annuario Orphanet-Italia delle Malattie Rare 2005, pag.27 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.23012302,2007 methylmalonicaciduria vitamin B12-responsive I Page 2 of 2