METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT

Question 1

What is  METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT?

Accepted Answer

rare (12 cases)
autosomal recessive
mutation in the gene encoding the transcobalamin receptor CD320
often detected on newborn screening
The long-term effects of this condition are yet to be unraveled, but TCblR defects should be considered in individuals with elevated blood and urine MMA who do not have other defects in Cbl metabolism [Quadros et al. 2010]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Methylmalonazidurie durch Transcobalamin-Rezeptor-Defekt

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 613646

Question 4

Which enzymes are involved?

Accepted Answer

CD320 antigen

Disease	METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT
Synonym	METHYLMALONIC ACIDEMIA, TCblR TYPE; TC RECEPTOR DEFECT
OMIM	613646 OMIM = Online Mendelian Inheritance of Men
Orphanet	280183
Protein (UniProt)	CD320 antigen
Gene locus	19p13.2
ICD	E71.1
Summary	rare (12 cases) autosomal recessive mutation in the gene encoding the transcobalamin receptor CD320 often detected on newborn screening The long-term effects of this condition are yet to be unraveled, but TCblR defects should be considered in individuals with elevated blood and urine MMA who do not have other defects in Cbl metabolism [Quadros et al. 2010]
Laboratory findings	Methylmalonic acid inc (serum) Homocysteine inc (serum) Methylmalonic acid inc (urine) Propionylcarnitine (C3) inc (blood)
Symptoms	no clinical symptoms (probably) no consistent clinical picture onset, infancy onset, neonatal retinal artery occlusions