MEGALOBLASTIC ANEMIA 1 (IMERSLUND-GRASBECK SYNDROME, IGS)

Question 1

What is  MEGALOBLASTIC ANEMIA 1 (IMERSLUND-GRASBECK SYNDROME, IGS)?

Accepted Answer

rare (1:200.000, 50% in Finland)
autosomal recessive
mutations either in the cubilin (CUBN) or amnionless (AMN) gene cause IGS

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Imerslund-Gräsbeck-Syndrom; Selektive Cobalamin-Malabsorption mit Proteinurie

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 261100

Question 4

Which enzymes are involved?

Accepted Answer

Cubillin, Protein amnionless

Disease	MEGALOBLASTIC ANEMIA 1 (IMERSLUND-GRASBECK SYNDROME, IGS)
Synonym	VITAMIN B(12) MALABSORPTION; MGA1;
OMIM	261100 OMIM = Online Mendelian Inheritance of Men
Orphanet	35858
Protein (UniProt)	Cubillin, Protein amnionless
Gene locus	14q32.32, 10p13
ICD	D51.1
Summary	rare (1:200.000, 50% in Finland) autosomal recessive mutations either in the cubilin (CUBN) or amnionless (AMN) gene cause IGS
Laboratory findings	L-Homocystine inc (urine) Methylmalonic acid inc (urine) Protein inc (urine) Vitamin B12 normal/dec (plasma)
Symptoms	anemia behavior, abnormal or bizarre, confusion dementia megaloblastic anemia mental retardation onset, childhood Organic acids, urine paresthesia peripheral neuropathy proteinuria