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Summary
VITAMIN B(12) MALABSORPTION. ANEMIA, PERNICOUS, JUVENILE. COBALAMIN MALABSORPTION
MEGALOBLASTIC ANEMIA 1 MGA1 IMERSLUND-GRASBECK SYNDROME, IGS
261100
OMIM = Online Medalian Inheritance of Men
35858
14q32.32, 10p13
  • vitamin B12 (hydroxycobalamin)
rare, 1:200.000, 50% in Finland
autosomal recessive
mutations either in the cubilin (CUBN) or amnionless (AMN) gene cause IGS
symptoms
anemia
mental retardation
onset, child
Organic acids, urine
laboratory finding
Vitamin B1250.00200.00200.00900.00pg/mlplasma
Homocystine0.000.003.008.00increasedurinenewborn
Methylmalonic acid150.0015500.000.002.00mmol/mol creatinineurinenewborn
Protein 50.0080.00
Literature
Yamaguchi Yet al.Biochemical characterization and intracellular localization of the Menkes disease proteinProc Natl Acad Sci USA93014030-51996
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Schiffmann Ret al.Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry diseaseProc Natl Acad Sci U S A970365-3702000
Asano Tet al.A girl having congenital chloride diarrhea treated with spironolactone for seven yearsActa Paediatr Jpn360416-4181994
Mazurier Fet al.Gene transfer of the uroporphyrinogen III synthase cDNA into haematopietic progenitor cells in view of a future gene therapy in congenital erythropoietic porphyriaJ Inherit Metab Dis200247-2571997