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Summary
INTRINSIC FACTOR DEFICIENCY (IFD)
261000
OMIM = Online Medalian Inheritance of Men
332
11q12.1
rare (~50 patients)
autosomal recessive
symptoms
anemia
failure to thrive
headache (severe, recurrent or occipital, migraine)
onset, childhood
paresthesia
peripheral neuropathy
laboratory finding
Vitamin B12 urine
Methylmalonic acid100.001000.00 mmol/mol Creaurine
Homocysteine200.002000.00 mmol/mol creatinineurine
Literature
Ginguay A,et al.Ornithine Aminotransferase, an Important Glutamate-Metabolizing Enzyme at the Crossroads of Multiple Metabolic PathwaysBiology (Basel)612017