Orphanet: Methylmalonic acidemia with homocystinuria type cblF

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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.

Expert reviewer(s): Dr David ROSENBLATT - Dr David WATKINS - Last update: March 2012

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

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