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Summary
MEGALOBLASTIC ANEMIA 1
VITAMIN B(12) MALABSORPTION 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
behavior, abnormal or bizarre, confusion
dementia
mental retardation
onset, childhood
Organic acids, urine
paresthesia
peripheral neuropathy
proteinuria
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
Nishizawa Y,et al.Alport syndrome and pregnancy: Good obstetric and nephrological outcomes in a pregnant woman with homozygous autosomal recessive Alport syndromeJ Obstet Gynaecol Res423331-3352016
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