Methylmalonic acidemia with homocystinuria

Orpha code: 26OMIM code: 614857

Definition

A rare 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).

Disease data
Classification

Disease

Synonyms
Combined defect in adenosylcobalamin and methylcobalamin synthesis
Acyduria metylomalonowa z homocystynurią
Łączony defekt w syntezie adenozylokobalaminy i metylkobalaminy
Methylmalonic aciduria with homocystinuria
ORPHA code
26
OMIM code
614857
ICD10 code
E71.1
ICD11 code
5C50.E0

No additional description.

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