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Summary
HYPOMAGNESEMIA 1, INTESTINAL HOMG1
HOMG1
602014
OMIM = Online Medalian Inheritance of Men
30924
9q21.13
  • magnesium
rare
autosomal recessive
mutations in the TRPM6 gene
symptoms
infantile spasms
onset, infancy
seizures
tetany
laboratory finding
Magnesium decreasedserum
Calcium decreasedserum
Literature
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Cochran FBPackman SHomocystinuria presenting as sagittal sinus thrombosisEur Neurol3201-31992
Sun R,Wang LThymidine kinase 2 enzyme kinetics elucidate the mechanism of thymidine-induced mitochondrial DNA depletionBiochemistry53396142-61502014
Oskoui M,et al.Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 geneArch Neurol6381122-11262006
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Perez-Perez MJ,et al.Structure, physiological role, and specific inhibitors of human thymidine kinase 2 (TK2): present and futureMed Res Rev285797-8202008
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Yaghmai Ret al.Progressive cerebral edema associated with high methionine levels and betaine therapy in a patient with cystathionine beta-synthase (CBS) deficiencyAm J Med Genet108057-632002
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Lang TFAdult presentations of medium-chain acyl-CoA dehydrogenase deficiency (MCADD)J Inherit Metab Dis326675-6832009
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Copeland WCDefects in mitochondrial DNA replication and human diseaseCrit Rev Biochem Mol Biol47164-672012