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Summary
MEVALONIC ACIDURIA
ACIDEMIA, MEVALONIC
610377
OMIM = Online Medalian Inheritance of Men
29
12q24.11
  • anakinra
  • cholesterol
  • coenzyme Q10
  • lipoic acid
  • vitamin C (ascorbate)
rare (~30 cases)
autosomal recessive
symptoms
arthralgia
ataxia
bone age
cataract
cerebellar atrophy or hypoplasia
diarrhea
dysmorphism
early death
edema
failure to thrive
fever
hepatomegaly (large liver)
hypotonia
infections (severe or recurrent)
mental retardation
microcephaly
myopathy
Organic acids, plasma
Organic acids, urine
pigmentation, skin and sclera
retinitis pigmentosa
seizures
short stature
skin rushes
splenomegaly (large spleen)
vomiting
laboratory finding
Mevalonolactone1000.0056000.000.002.00mmol/mol creatinineurine
Mevalonic acid1000.0056000.000.002.00mmol/mol creatinineurine
Mevalonic acid20.00540.000.000.00-Ámol/lplasma
Mevalonate kinase18.0056.00980.001950.00pmol/(min * mg proteine)fibroblasts
Hemoglobine6.0014.0012.0015.00g/dlblood
Creatine kinase100.003000.0040.00400.00U/lserum
Cholesterol 1.804.50normal/decreasedserum
Literature
van den Berghe GDisorders of purine and pyrimidine metabolismin Fernandes J, Saudubray JM, Tada K (eds): Inborn metabolic diseases, diagnosis and treatment Berlin, Springer Verlag00455-4741990
Fenton WARosenberg LEInherited disorders of cobalamin transport and metabolismThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.203129-32491995
Poll-The BTet al.Mevalonic aciduria in 12 unrelated patients with hyperimmunglobulinaemia D and periodic fever syndromeJ Inherit Metab Dis230363-3662000
Smith IDisorders of tetrahydrobiopterin metabolismin Fernandes J, Saudubray J-M, Tada K (eds): Inborm metabolism diseases. Diagnosis and treatment. Berlin, Springer Verlag00183-1991
Bouchard Let al.Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: clinical course and description of causal mutations in two patientsPediatr Res493326-3312001
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991
Drenth JPet al.Identification of the gene for hyper-IgD syndrome: a model of modern genetics Article in DutchNed Tijdschr Geneeskd1440782-7852000
Zannolli Ret al.Hereditary xanthinuria type II associated with mental delay, autism, cortical renal cysts, nephrocalcinosis, osteopenia, and hair and teeth defectsJ Med Genet40111212003
Meissner TMayatepek ESarcosinaemia in a patient with severe progressive neurological damage and hypertrophic cardiomyopathyJ Inherit Metab Dis200717-7181997
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994