| Disease | VITAMIN B(12) MALABSORPTION. ANEMIA, PERNICOUS, JUVENILE. COBALAMIN MALABSORPTION |
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| Synonym | MEGALOBLASTIC ANEMIA 1; MGA1; IMERSLUND-GRASBECK SYNDROME, IGS |
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| OMIM | 261100
Comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes
OMIM = Online Medalian Inheritance of Men |
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| Enzyme | selective intestinal malabsorption of vitamin B(12)
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| Gene locus |
14q32, 10p12.1
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| genetests.org |
search search on genetest.org by MIM 261100
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| Summary | rare, 50% in Finland autosomal recessive mutations either in the cubilin (CUBN) or amnionless (AMN) gene cause IGS |
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| Clinical symptoms | |
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Abnormal Findings in
plasma |
- Vitamin B12
Normal: 200.00-900.00 pg/ml
| Significant : 50.00-200.00 pg/ml
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Abnormal Findings in
urine |
- Homocystine
Normal: -88.00 µmol/l
| Significant : - increased
- Methylmalonic acid
Normal: 0.00-2.00 mmol/mol creatinine
| Significant : 150.00-15500.00 mmol/mol creatinine
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| Treatment |
- vitamin B12 (hydroxycobalamin)
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| Literature | There are 5 publications available.
Click here to open the relevant VITAMIN B(12) MALABSORPTION. ANEMIA,
|
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