TLDR Early diagnosis and proper treatment improve outcomes for methylmalonic acidemia.
The study analyzed 14 patients with methylmalonic acidemia (MMA) to understand its clinical characteristics and treatment. The patients, aged from birth to 9 years, exhibited symptoms such as lethargy, developmental retardation, convulsions, and yellowish hair. Laboratory findings included metabolic acidosis and elevated urinary methylmalonic acid. Early diagnosis using gas chromatography/mass spectrometry (GC/MS) and treatment with vitamin B12, L-carnitine, and a restricted-protein diet were crucial. Of the 11 survivors, 7 showed favorable outcomes with medical therapy, though 2 died from severe metabolic acidosis. Early diagnosis and appropriate long-term treatment were essential for improving prognosis.
8 citations,
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.
76 citations,
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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8 citations,
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.
49 citations,
July 1994 in “British journal of dermatology/British journal of dermatology, Supplement” Some children with methylmalonic and propionic acidaemias have skin problems related to their condition and diet.
