Search for a rare disease
Other search option(s)
Methylmalonic acidemia with homocystinuria type cblF
Disease definition
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:79284
Classification level: Subtype of disorder- Synonym(s):
- 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
- ICD-11: 5C50.E0
- OMIM: 277380
- UMLS: C1848578
- MeSH: C564747
- GARD: 3584
- MedDRA: -
Summary
Epidemiology
To date, 15 cases have been reported.
Clinical description
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.
Etiology
The disorder is caused by mutations in the LMBRD1 gene (6q13) and is transmitted in an autosomal recessive manner.
A summary on this disease is available in Deutsch (2012) Español (2012) Français (2012) Italiano (2012) Nederlands (2012) Português (2012) Polski (2012, PDF)
Detailed information
General public
- Article for general public
- Czech (2011, pdf) - EIMD
- Deutsch (2011, pdf) - EIMD
- English (2011, pdf) - EIMD
- Español (2011, pdf) - EIMD
- Français (2011, pdf) - EIMD
- Hrvatski (2011, pdf) - EIMD
- Italiano (2011, pdf) - EIMD
- Nederlands (2011, pdf) - EIMD
- Polski (2011, pdf) - EIMD
- Português (2011, pdf) - EIMD
- Türkçe (2011, pdf) - EIMD
- Svenska (2021) - Socialstyrelsen
Guidelines
- Clinical practice guidelines
- English (2014) - Orphanet J Rare Dis
- Français (2020) - PNDS
- English (2021) - J Inherit Metab Dis
- Anesthesia guidelines
- Czech (2017) - Orphananesthesia
- English (2017) - Orphananesthesia
Disease review articles
- Clinical genetics review
- English (2021) - GeneReviews


Additional information