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Summary
FAMILIAL MULTIPLE COAGULATION FACTOR DEFICIENCY
VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1
277450
OMIM = Online Medalian Inheritance of Men
98434
2q11.2
  • vitamin K
very rare
autosomal recessive
- intestinal absorption/transport of vitamin K
- mutations in the gamma-glutamyl carboxylase
- deficiency of the multicomplex vitamin K 2,3-epoxide reductase
symptoms
bleeding tendencies, hemorrhages
Coagulopathy/Coagulation factors
dysmorphism
early death
onset, neonatal
skeletal changes, skeletal abnormalities
laboratory finding
Literature
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Kono SAceruloplasminemiaCurr Drug Targets1391190-11992012
Fournier Bet al.Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophyJ Clin Invest940526-5311994
Gerards M,et al.Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old geneBrain1340210-2192011
Nouws J,et al.Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I.Cell Metab. 2010 Sep 812(3):283-94.123283-2942010
Tanaka KR,Paglia DEPyruvate Kinase and Other Enzymopathies of the ErythrocyteThe Metabolic and Molecular Bases of Inherited Disease on CD-ROM The McGraw-Hill Companies001997
Jung AG,et al.Acrodermatitis enteropathica: an uncommon differential diagnosis in childhood - first description of a new sequence variantJ Dtsch Dermatol Ges912999-10022011
Azemi M,et al.Acrodermatitis enteropathicaMed Arh662137-1392012
Endo Fet al.Four-hydroxyphenylpyruvic acid oxidase deficiency with normal fumarylacetoacetase: A new variant form of hereditary hypertyrosinemiaPediatr Res17092-961983