Methylmalonic aciduria and homocystinuria type cblC
MONDO:0010184A 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. cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner.
Also known as: cblC defect, cobalamin C defect, cobalamin c disease, combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC, methylmalonic aciduria and homocystinuria type cblC, methylmalonic aciduria with homocystinuria, type cblC, MAHCC, cblC
28 clinical trials for this condition and its sub-types.
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Blood transfusion thresholds tested to save elderly surgical patients
Disease control CompletedThis study tests whether giving blood transfusions more liberally (when hemoglobin drops to 9 g/dL) versus more restrictively (when it drops to 7.5 g/dL) reduces death and serious complications like heart attack, stroke, or kidney injury in patients aged 70 and older undergoing n…
Phase: PHASE3 • Sponsor: Johann Wolfgang Goethe University Hospital • Aim: Disease control
Last updated Jul 23, 2026 00:00 UTC
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New scoring system aims to cut child deaths from malnutrition in chad
Disease control CompletedThis study tested a simple scoring system called RISQ to help healthcare workers quickly identify which severely malnourished children are most at risk of dying. Over 14,600 children aged 6 to 59 months in Chad took part. The goal was to see if using the RISQ system could lower d…
Phase: NA • Sponsor: The Hospital for Sick Children • Aim: Disease control
Last updated Jun 27, 2026 13:00 UTC
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Can cookies fight malnutrition? new study tests a tasty solution
Disease control CompletedThis study tested whether special cookies made from soy, chickpea, and peanut flour could improve the health of malnourished children. Sixty children aged 3 to 10 years were split into two groups: one group ate the cookies daily for three months along with their regular diet, whi…
Phase: NA • Sponsor: Mairaj Noor • Aim: Disease control
Last updated Jun 27, 2026 12:02 UTC
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Laser test could objectively measure nerve pain for first time
Diagnosis CompletedThis study tested whether a diode laser can act as a biomarker to measure neuropathic pain in people with peripheral neuropathy. Researchers compared pain responses to a lidocaine patch versus a placebo patch in 75 participants. The goal was to see if the laser test could disting…
Phase: NA • Sponsor: University of Utah • Aim: Diagnosis
Last updated Jun 27, 2026 12:09 UTC
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Anemia in kids may be tied to bigger hearts, study finds
Knowledge-focused CompletedThis study explored whether low hemoglobin (anemia) is linked to an enlarged heart (cardiomegaly) in children up to 18 years old. Researchers used chest X-rays and echocardiograms to check for heart enlargement in 56 anemic children. The goal was to better understand how anemia a…
Sponsor: Universitas Sumatera Utara • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:00 UTC
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Hidden gut infections may sabotage TB recovery, study suggests
Knowledge-focused CompletedThis completed study looked at 141 people being treated for tuberculosis (TB) to see if intestinal parasites or poor nutrition made their recovery harder. Researchers checked stool samples for parasites and measured weight gain and treatment success. Some participants received nu…
Sponsor: Boston Medical Center • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:56 UTC