methylmalonic aciduria and homocystinuria type cblF
Findings
No curated finding names methylmalonic aciduria and homocystinuria type cblF yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. The disorder is caused by mutations in the LMBRD1 gene (6q13) and is transmitted in an autosomal recessive manner.
Definition from the Mondo Disease Ontology (MONDO:0010183), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
41 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- HyperhomocystinemiaHPOHP:0002160
- 12 of 12 reported patients
- Very frequent (80% to 99% of cases)
- Methylmalonic acidemiaHPOHP:0002912
- 12 of 12 reported patients
- Methylmalonic aciduriaHPOHP:0012120
- 12 of 12 reported patients
- Very frequent (80% to 99% of cases)
- Decreased circulating adenosylcobalamin concentrationHPOHP:0003145
- Very frequent (80% to 99% of cases)
- Decreased circulating methylcobalamin concentrationHPOHP:0003223
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- LMBRD1HGNC:23038
- Definitive · ClinGen · Autosomal recessive · 2021
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
6 names
Resolves to: methylmalonic aciduria and homocystinuria type cblF
- Also called
- cblF defectcobalamin F defectcombined defect in adenosylcobalamin and methylcobalamin synthesis, type cblFinherited methylmalonic acidemia and homocystinurialysosomal membrane cobalamin transporter deficiencymethylmalonic aciduria with homocystinuria, type cblF