RIBOFLAVIN DEFICIENCY; RBFVD

Question 1

What is  RIBOFLAVIN DEFICIENCY; RBFVD?

Accepted Answer

very rare
autosomal dominant
mutation in the SLC52A1 gene
Haploinsufficiency of this riboflavin transporter causes mild riboflavin
deficiency, and when coupled with nutritional riboflavin deficiency in
pregnancy, resulted in the transient riboflavin-responsive disease (Glutaric aciduria II) seen
in her newborn infant [Ho G et al. 2011]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Riboflavin-Mangel, maternaler

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 615026

Question 4

Which enzymes are involved?

Accepted Answer

Solute carrier family 52, riboflavin transporter, member 1

Disease	RIBOFLAVIN DEFICIENCY; RBFVD
Synonym	MATERNAL RIBOFLAVIN DEFICIENCY
OMIM	615026 OMIM = Online Mendelian Inheritance of Men
Orphanet	411712
Protein (UniProt)	Solute carrier family 52, riboflavin transporter, member 1
Gene locus	17p13.2
ICD	P00.4
Summary	very rare autosomal dominant mutation in the SLC52A1 gene Haploinsufficiency of this riboflavin transporter causes mild riboflavin deficiency, and when coupled with nutritional riboflavin deficiency in pregnancy, resulted in the transient riboflavin-responsive disease (Glutaric aciduria II) seen in her newborn infant [Ho G et al. 2011]
Laboratory findings	Acylcarnitine (C2) inc (plasma) D-Glucose dec (plasma)
Symptoms	feeding difficulties, poor feeding hypoglycemia metabolic acidosis no clinical symptoms (probably) onset, adulthood onset, neonatal