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COBALAMIN F DISEASE (cblF)

COBALAMIN F DISEASE (cblF)
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE
277380
OMIM = Online Mendelian Inheritance of Men
79284
Probable lysosomal cobalamin transporter
6q13
E72.1
rare (15 cases)
autosomal recessive
disorder of intracellular cobalamin metabolism
mutation in the LMBRD1 gene
Laboratory findingsBetaine 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