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Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database 16475 mevalonic aciduria Eponyms: Inheritance: mevalonate kinase deficiency mevalonic acidemia MVK MVLK autosomal recessive Semeiological Gastrointestinal-metabolic-neurologic disorder. Psychomotor/growth retardation, diarrhea, gastroentheropahies resembling cow's milk intolerance, hypotonia, microcephaly, seizures, mental Synthesis: retardation, dysmorphic triangular facies, cataract, hepatosplenomegaly. Group Sub group Signs: GASTROINTESTINAL DISORDERS intestinal dysfunctions malabsorption, including diarrhea liver dysfunctions, liver anomalies hepatomegaly, liver enlarged LABORATORY DATA biochemical markers metabolic defect chromosomal assignment chromosome 12q localization foetal-amniotic biochemical data mevalonic acid (foetal) mevalonic kinase (foetal) gene, structural-functional anomalies gene analysis-DNA analysis MVK (MVLK), gene chr.12q24 MVLK mevalonate kinase myelo-erythropoietic disorders anaemia, no haemolytic plasma nonprotein-organic constituents, anomalies amino acid disorders aminoacid branched chain disorders Leu,Ileu,Val hypoglycemia plasma proteins, anomalies organic acid disorders tissue, biochemical changes metabolic acidosis, ketonuria, ketosis, ketonemia, ketoacidosis mevalonate kinase , low activity urine, constituent changes mevalonicaciduria organic aciduria MUSCULAR DISEASES systemic muscular defects hypotonia, muscular weakness, muscular hypoplasia, myastenia, not including atyrophy NEUROLOGICAL DISORDERS brain anomalies microcephaly, microcrania mental retardation mental retardation neurological dysfunctions cerebellar ataxia, sensory ataxia seizures, convulsions, epilepsy OCULAR DISORDERS lens, defects cataract, no isolated defect mevalonic aciduria Page 1 of 2 Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database cataract, unspecified type sclera, changes sclerae blue OROCRANIOFACIAL ANOMALIES facies, modified appearance dysmorphic face facial dysmorphism due to cranial changes including microcephaly OTHERS inheritance inheritance, autosomal recessive supergroups facio-gastrointestinal-neuro-oculo-skeletal disorders gastrointestinal-oculo-skeleal disorders PRENATAL-NEONATAL MODIFIED DATA foetal changes foetal changes, recognized by laboratory data foetal changes, recognized by ultrasound techniques prenatal diagnosis prenatal diagnosis, echographic prenatal diagnosis, metabolic prenatal diagnosis, molecular SKELETAL DISORDERS fontanelles-sutures,changes fontanelles, cranial sutures, closure delayed stature, growth, modified habitus growth delayed, failure to thrive, growth retardation Super group: dysmorphic face-mental retardation: metabolic disorders dysmorphic face-mental retardation: neuromuscular disorders facio-gastrointestinal-neuro-oculo-skeletal disorders facio-neuro-ocular disorders facio-ocular disorders gastrointestinal-oculo-skeletal disorders Super aggreg. FOETAL CHANGES foetal changes, recognized by laboratory data Aggregations: foetal changes, recognized by ultrasound techniques 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 OTHER cataract, not isolated defect craniofacial dysmorphism due to cranial changes, including microcephaly dysmorphic face Differential diagnosis: Bibliography mevalonic aciduria 360 acrodermatitis enteropathica, zincdeficiency type 27655 Gomes-Hunter syndrome 9262 Salomons syndrome OMIM ID: 251170 Annuario Orphanet-Italia delle Malattie Rare 2005, pag.28 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.2303,2007 Page 2 of 2
