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Summary
CHOLESTERYL ESTER STORAGE DISEASE
CHOLESTERYL ESTER STORAGE DISEASE
278000
OMIM = Online Medalian Inheritance of Men
75234
10q23.31

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • HMG-CoA reductase inhibitor
rare (41 cases)
autosomal recessive
symptoms
adrenal calcification
cirrhosis or fibrosis of liver
eosinophilia
hepatomegaly (large liver)
liver failure
onset, childhood
pain, abdominal
splenomegaly (large spleen)
xanthoma
laboratory finding
Cholesterol300.00420.00120.00200.00mg/dlserum
Triglycerides100.00420.0030.0099.00mg/dlserum
Literature
Levy HLTaylor RG, McInnes RRDisorders of histidine 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.101107-11231995
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Aslanidis Cet al.Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activityGenomics33085-931996
Kuriyama Met al.Lysosomal diseases metachromatic leukodystrophy (adult), Krabbes disease (adult)Nippon Rinsho620393-3982004
Moeller Pet al.Progressive neuronal degeneration of childhood with liver disease (Morbus Alpers)Monatschr Kinderheilk1420863-8671994
Ichinose Het al.Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GPT cyclohydrolase I geneNat Genet83236-2421994
Levy HLTaylor RG, McInnes RRDisorders of histidine 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.101107-11231995
Kagalwalla AFCongenital chloride diarrhea. A study in Arab childrenJ Clin Gastroenterol19036-401994
Ichinose Het al.Characterization of mouse and human GTP cyclohydrolase I genes. Mutations in patients with GTP cyclohydrolase I deficiencyJ Biol Chem270010062-711995
Tanaka Het al.The gene for hereditary progressive dystonia with marked diurnal fluctuations maps to chromosom 14qAnn Neurol373405-4081995
Ichinose Het al.GTP cyclohydrolase I gene in hereditary progressive dystonia with diurnal fluctuationNeurosci Lett19605-81995