What is TRANSCOBALAMIN II DEFICIENCY?

rare (~50 cases) autosomal recessive

Gibt es eine deutsche Bezeichnung?

Transcobalamin-II-Mangel; Transcobalamin-II-Mangelanämie

Disease	TRANSCOBALAMIN II DEFICIENCY
Synonym	TCN2 DEFICIENCY
OMIM	275350 OMIM = Online Mendelian Inheritance of Men
Orphanet	859
Protein (UniProt)	Transcobalamin-2
Gene locus	22q12.2 Detail information to gene locus by the National Center for Biotechnology Information NCBI: Transcobalamin II
ICD	D51.2
Summary	rare (~50 cases) autosomal recessive
Laboratory findings	Methylmalonic acid inc (plasma) Methylmalonic acid inc (urine) Hemoglobine dec (blood) Homocysteine normal/inc (plasma) L-Homocystine normal/inc (urine) Transcobalamin dec (plasma) unsaturated vitamin B12 binding capacity dec (plasma)
Symptoms	anemia ataxia behavior, abnormal or bizarre, confusion developmental delay diarrhea EEG abnormalities [-] failure to thrive feeding difficulties, poor feeding glossitis hypotonia infections (severe or recurrent) irritability lethargy, drowsiness, apathy megaloblastic anemia mental retardation muscle weakness neurological deterioration neutropenia (decreased neutrophils) onset, infancy onset, neonatal Organic acids, urine pallor seizures thrombopenia, thrombocytopenia vomiting