Methylmalonic aciduria and homocystinuria

MONDO:0016826

An inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ).

Also known as: combined defect in adenosylcobalamin and methylcobalamin synthesis, methylmalonic aciduria with homocystinuria, methylmalonic acidemia and homocystinemia

24 clinical trials for this condition and its sub-types, 1 tagged with Methylmalonic aciduria and homocystinuria itself.

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Where it sits in the disease tree

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↑ Classic organic aciduria (20) ↑ Hereditary anemia (13) ↑ Homocystinuria (11) ↑ Methylmalonic acidemia (8) ↑ Inborn disorder of cobalamin metabolism and transport (3)

Sub-types of Methylmalonic aciduria and homocystinuria

Methylmalonic aciduria and homocystinuria type cblC 3 trials
Methylmalonic aciduria and homocystinuria type cblD 2 trials
Methylmalonic acidemia with homocystinuria, type cblJ 1 trial
Methylmalonic aciduria and homocystinuria type cblF 1 trial
Methylmalonic acidemia with homocystinuria, type cblX 0 trials
Methylmalonic aciduria and homocystinuria, cb1L type 0 trials

Including sub-types (24) Tagged with Methylmalonic aciduria and homocystinuria (1)

Not yet finished but already full! 1

Newborn screening study aims to catch rare diseases at birth

Diagnosis Ongoing

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

Sponsor: RTI International • Aim: Diagnosis

Last updated Jul 03, 2026 00:00 UTC

Methylmalonic aciduria and homocystinuria

Where it sits in the disease tree

Newborn screening study aims to catch rare diseases at birth