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Long-term liver disease in methylmalonic and propionic acidemias.
Apolline Imbard1, Nuria Garcia Segarra2, Marine Tardieu3
1Biochemistry Laboratory, APHP, Robert Debré University Hospital, Paris, France; Paris Sud University, Chatenay Malabry, France.
Methylmalonic acidemia (MMA) and propionic acidemia (PA) can cause long-term liver abnormalities, including fibrosis and cirrhosis. Early liver function evaluation is crucial for these organic aciduria patients.
Area of Science:
- Biochemistry
- Hepatology
- Pediatric Genetics
Background:
- Methylmalonic acidemia (MMA) and propionic acidemia (PA) are inborn errors of metabolism associated with severe complications.
- Liver disease is an underrecognized complication in patients with MMA and PA.
- This study aimed to characterize long-term liver involvement in MMA and PA.
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