TLDR Looser dietary restrictions can improve growth and reduce illness in methylmalonic acidemia patients.
The document discussed methylmalonic acidemia (MMA), a severe metabolic disorder, particularly when there was a complete deficiency of methylmalonyl-CoA mutase. It was noted that dietary restrictions in patients led to overt signs of deficiencies, such as skin rashes, hair loss, and poor growth. However, a more liberal intake of the restricted amino acids resulted in improved growth and less frequent episodes of illness, suggesting that treatment could be improved by adjusting dietary restrictions.
76 citations
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May 2011 in “Liver transplantation” Liver transplantation is a viable option for children with propionic acidemia, improving quality of life and diet, but does not remove all risks and long-term brain outcomes are uncertain.
74 citations
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July 1979 in “Lancet” Biotin treatment can significantly improve hair loss and motor functions in certain metabolic disorders.
8 citations
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October 2022 in “International Journal of Molecular Sciences” Self-amplifying RNA could be a better option for protein replacement therapy with lower doses and lasting effects, but delivering it into cells is still challenging.
2 citations
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August 2004 Early diagnosis and proper treatment improve outcomes for methylmalonic acidemia.
8 citations
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December 2019 in “Molecular genetics and metabolism reports” Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
