INTRINSIC FACTOR DEFICIENCY (IFD)

Question 1

What is  INTRINSIC FACTOR DEFICIENCY (IFD)?

Accepted Answer

rare (~50 patients)
autosomal recessive

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Intrinsic-Faktor-Mangel, kongenitaler; Anämie, juvenile megaloblastische, durch Intrinsic-Faktor-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 261000

Question 4

Which enzymes are involved?

Accepted Answer

Gastric intrinsic factor

Disease	INTRINSIC FACTOR DEFICIENCY (IFD)
OMIM	261000 OMIM = Online Mendelian Inheritance of Men
Orphanet	332
Protein (UniProt)	Gastric intrinsic factor
Gene locus	11q12.1
ICD	D51.0
Summary	rare (~50 patients) autosomal recessive
Laboratory findings	Homocysteine inc (urine) Methylmalonic acid inc (urine) Vitamin B12 dec (plasma)
Symptoms	anemia failure to thrive headache (severe, recurrent or occipital, migraine) lethargy, drowsiness, apathy megaloblastic anemia onset, childhood paresthesia peripheral neuropathy