TRANSCOBALAMIN I DEFICIENCY

rare (<20 cases) autosomal recessive

Question 1

What is  TRANSCOBALAMIN I DEFICIENCY?

Accepted Answer

rare (<20 cases)
autosomal recessive

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Protein-R-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 193090

Question 4

Which enzymes are involved?

Accepted Answer

B12-binding protein 2 ?

Disease	TRANSCOBALAMIN I DEFICIENCY
Synonym	TCN1 DEFICIENCY
OMIM	193090 OMIM = Online Mendelian Inheritance of Men
Orphanet	2967
Gene locus	11q12.1
ICD	E53.8
Summary	rare (<20 cases) autosomal recessive
Laboratory findings	Vitamin B12 dec (serum)
Symptoms	no clinical symptoms (probably) no consistent clinical picture onset, adulthood