MEVALONIC ACIDURIA

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Disease	MEVALONIC ACIDURIA
Synonym	ACIDEMIA, MEVALONIC
OMIM	251170 Comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes OMIM = Online Medalian Inheritance of Men
Orphanet	Short summery, also for non professionals on www.orpha.net
Enzyme	mevalonate kinase Detailed enzyme information on www.expacy.ch
Gene locus	12q24 Detail information to gene locus by the National Center for Biotechnology Information NCBI: Mevalonate kinase
genetests.org	search search on genetest.org by MIM 251170 search search on genetest.org by MEVALONIC+ACIDURIA Testing - View a listing of laboratories that provide clinical testing for this disorder
Summary	rare (30 cases) autosomal recessive
Clinical symptoms	arthralgia ataxia bone age cataract cerebellar atrophy or hypoplasia diarrhea dysmorphism early death edema failure to thrive fever hypotonia infections (severe or recurrent) large liver large spleen mental retardation microcephaly myopathy Organic acids, plasma Organic acids, urine pigmentation, skin and sclera retinitis pigmentosa seizures short stature skin rushes vomiting
Abnormal Findings in blood	Hemoglobine Normal: 12.00-15.00 g/dl \| Significant : 6.00-14.00 g/dl
Abnormal Findings in fibroblasts	Mevalonate kinase Normal: 980.00-1950.00 pmol/(min * mg protein) \| Significant : 18.00-56.00 pmol/(min * mg proteine)
Abnormal Findings in plasma	Mevalonic acid \| Significant : 20.00-540.00 µmol/l
Abnormal Findings in serum	Cholesterol Normal: 1.80-4.50 mmol/l \| Significant : - normal/decreased Creatinine kinase Normal: 40.00-400.00 U/l \| Significant : 100.00-3000.00 U/l
Abnormal Findings in urine	Mevalonic acid Normal: 0.00-2.00 mmol/mol creatinine \| Significant : 1000.00-56000.00 mmol/mol creatinine Mevalonolactone Normal: 0.00-2.00 mmol/mol creatinine \| Significant : 1000.00-56000.00 mmol/mol creatinine
Treatment	anakinra cholesterol coenzyme Q10 lipoic acid vitamin C (ascorbate)
Picture 44	2 siblings with mevalonic aciduria with psychomotoric retardation, recurrent fibrile crises, vomiting and skin rush
Literature	There are 11 publications available. Click here to open the relevant MEVALONIC ACIDURIA publications
Ramedis Case reports with long term followup	There are 11 patient data available. Click here to open the list of MEVALONIC ACIDURIA patients documented in Ramedis database