Methylmalonic aciduria and homocystinuria type cblF
MONDO:0010183A 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.
Also known as: cblF defect, cobalamin F defect, combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF, inherited methylmalonic acidemia and homocystinuria, lysosomal membrane cobalamin transporter deficiency, methylmalonic aciduria and homocystinuria type cblF, methylmalonic aciduria with homocystinuria, type cblF, MAHCF
19 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsBroader categories
-
A simple drink may help seniors rebuild strength after illness
Disease control Not yet recruitingThis trial tests whether adding a twice-daily nutritional drink to standard care helps adults aged 55 and older regain weight and muscle strength after being hospitalized for an acute illness. Participants are at risk of malnutrition and have low grip strength. Half receive the d…
Phase: NA • Sponsor: Abbott Nutrition • Aim: Disease control
Last updated Aug 09, 2026 00:00 UTC
-
Could a simple packaging change help more children get the nutrients they need?
Disease control Not yet recruitingThis study tests whether giving caregivers a weekly bulk container (7-day supply) versus daily single-use sachets (1-day supply) of a nutrient supplement improves how much children actually consume. About 500 caregivers of children aged 6-24 months in northern Ghana will try both…
Phase: NA • Sponsor: Boston University Charles River Campus • Aim: Disease control
Last updated Jul 12, 2026 00:00 UTC
-
Could a painless light sensor replace the needle for anemia screening?
Diagnosis Not yet recruitingThis study tests whether a non-invasive device that uses light to measure hemoglobin through the skin can accurately detect anemia. Researchers will compare its readings with standard blood tests in 150 adults in Jakarta. If the device proves reliable, it could offer a quick, pai…
Sponsor: Tarumanagara University • Aim: Diagnosis
Last updated Jul 17, 2026 00:00 UTC
-
Hidden gut parasites could be making malnourished kids sicker
Knowledge-focused Not yet recruitingThis study in Assiut, Egypt, will check 116 children aged 2-15 for intestinal parasites to see if these infections are more common in malnourished kids compared to healthy ones. The goal is to understand how parasites like Giardia and hookworms might cause or worsen malnutrition …
Sponsor: Assiut University • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:01 UTC