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Copyright V. Ventruto / A. Di Luccio Genus database 13480 isovaleric acidemia Eponyms: Inheritance: isovaleric acid-CoA dehydrogenase deficiency IVA IVD sweaty feet syndrome autosomal recessive Semeiological Metabolic disorder, isolated defect. First days of life onset; vomiting, acidosis without ketoaciduria or aminoacidemia, severe rapid neurological signs, mental retardation, characteristic "sweaty feet" odor. Synthesis: Group Sub group Signs: DERMATOLOGICAL DISORDERS sebaceous-sudoriparous glands, changes sweet bad smelling, including fish-odor GASTROINTESTINAL DISORDERS intestinal dysfunctions vomit liver dysfunctions, liver anomalies hepatomegaly, liver enlarged liver, acute/chronic dysfunction, fatty liver, steatosis, including liver enlarged HEMOPOIETIC-LYMPHORETICULAR SYSTEM DISORDERS coagulation disorders, including platelet changes thrombopenia, thrombopathy, platelet reduction, thrombocytopenia LABORATORY DATA biochemical markers metabolic defect chromosomal assignment chromosome 15q localization foetal-amniotic biochemical data isovaleryl-CoA dehydrogenase (foetal) isovalerylglycine (foetal) gene, structural-functional anomalies gene analysis-DNA analysis IVD isovaleryl coenzyme A dehydrogenase, gene chr.15q14-q15 granulocytes, changes granulocytes, reduction absence, neutropenia plasma electrolytes-inorganic constituents, modified functions hyperammonemia plasma nonprotein-organic constituents, anomalies amino acid disorders aminoacid branched chain disorders Leu,Ileu,Val isovaleric acid, high levels plasma proteins, anomalies organic acid disorders tissue, biochemical changes fatty acid oxidation defect isovaleric acid-CoA dehydrogenase, low activity metabolic acidosis, ketonuria, ketosis, ketonemia, ketoacidosis urine, constituent changes bad smelling, urinary isovalerylglycine NEUROLOGICAL DISORDERS isovaleric acidemia Page 1 of 2 Copyright V. Ventruto / A. Di Luccio Genus database 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 prenatal diagnosis, metabolic prenatal diagnosis, molecular Super group: Super aggreg. FOETAL CHANGES foetal changes, recognized by laboratory data Aggregations: METABOLIC DISORDERS amino acid disorders metabolic acidosis, ketonuria, ketosis, ketonemia, ketoacidosis organic acid disorders organic acidemias: essential branched chain aminoacids defects Leu-Ileu-Val organic acidurias Differential diagnosis: Bibliography isovaleric acidemia 16430 7701 11775 12577 14322 beta-methylcrotonylglycinuria I dimethylglycine dehydrogenase deficiency hawkinsinuria hydroxyisobutyryl-CoA deacylase deficiency lactic acidemia X-lipoyl containing component defect 14321 lactic acidemia-E2 lipoyl transacetylase defect OMIM ID: 243500 OMIM ID: 607036 Annuario Orphanet-Italia delle Malattie Rare, 2005 pag.12 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.22962297,2007 Page 2 of 2
