COBALAMIN F DISEASE (cblF)

Question 1

What is  COBALAMIN F DISEASE (cblF)?

Accepted Answer

rare (15 cases)
autosomal recessive
disorder of intracellular cobalamin metabolism
mutation in the LMBRD1 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Methylmalonazidämie mit Homocystinurie Typ cbl F

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 277380

Question 4

Which enzymes are involved?

Accepted Answer

Probable lysosomal cobalamin transporter

Disease	COBALAMIN F DISEASE (cblF)
Synonym	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE
OMIM	277380 OMIM = Online Mendelian Inheritance of Men
Orphanet	79284
Protein (UniProt)	Probable lysosomal cobalamin transporter
Gene locus	6q13
ICD	E72.1
Summary	rare (15 cases) autosomal recessive disorder of intracellular cobalamin metabolism mutation in the LMBRD1 gene
Laboratory findings	Betaine normal/inc (urine) Cobalamin dec (serum) Homocysteine inc (plasma) Methionine normal/dec (plasma) Methylmalonic acid inc (urine)
Symptoms	anemia blindness, visual loss, visual impairment congenital heart defect developmental delay dysmorphism failure to thrive feeding difficulties, poor feeding hypotonia liver involvement or dysfunction megaloblastic anemia neurologic defect or dysfunction neutropenia (decreased neutrophils) seizures small for gestational age (SGA), intrauterine growth retardation (IUGR) cardiomyopathy cerebral atrophy cleft palate growth retardation, poor growth infections (severe or recurrent) maculopathy nystagmus onset, infancy onset, neonatal short stature speech development, delayed, abnormal thrombopenia, thrombocytopenia