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Summary
TRANSCOBALAMIN II DEFICIENCY
TCN2 DEFICIENCY
275350
OMIM = Online Medalian Inheritance of Men
859
22q12.2

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • vitamin B12 (hydroxycobalamin)
rare
autosomal recessive
symptoms
anemia
ataxia
behavior, abnormal or bizarre, confusion
developmental delay
diarrhea
failure to thrive
feeding difficulties, poor feeding
glossitis
hypotonia
infections (severe or recurrent)
irritability
lethargy, drowsiness, malaise or sleep disorder
mental retardation
muscle weakness
neurological deterioration
neutropenia (decreased neutrophils)
onset, infancy
onset, neonatal
Organic acids, urine
pallor
seizures
thrombopenia, thrombocytopenia
vomiting
laboratory finding
Methylmalonic acid150.00500.000.002.00mmol/mol creatinineurinenewborn
Hemoglobine8.0015.0012.0015.00g/dlblood
Transcobalamin decreasedplasma
EEG abnormalities -
Homocystine0.000.00 increasedurine
Homocysteine increasedplasma
unsaturated vitamin B12 binding capacity decreasedplasma
Methylmalonic acid increasedplasma
Literature
Drummond KNet al.The blue diaper syndrome: Familial hypercalcemia with nephrocalcinosis and indicanuriaAm J Med370928-1964
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Kamoda Tet al.Lysinuric protein intolerance and systemic lupus erythematosusEur J Pediatr1570130-1311998
Shalev Het al.Clinical presentation and outcome in primary familial hypomagnesaemiaArch Dis Child780127-1301998