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Methylmalonic acidemia with homocystinuria type cblF
cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.
ORPHA:79284Classification level: Subtype of disorder
- CblF defect
- Cobalamin F defect
- Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF
- Lysosomal membrane cobalamin transporter deficiency
- Methylmalonic aciduria with homocystinuria, type cblF
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Childhood
- ICD-10: E72.1
- OMIM: 277380
- UMLS: C1848578
- MeSH: -
- GARD: 3584
- MedDRA: -
To date, 15 cases have been reported.
cblF type methylmalonic acidemia with homocystinuria has a variable age of onset (from birth to 11 years of age) and manifestations also vary and can include development delay, feeding difficulties, signs of megaloblastic anemia (pallor, fatigue, anorexia), hypotonia, stomatitis and skin rashes.
The disorder is caused by mutations in the LMBRD1 gene (6q13) and is transmitted in an autosomal recessive manner.
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