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This study observed that 13 out of 38 children with methylmalonic and propionic acidaemia exhibited specific cutaneous manifestations, suggesting these conditions may include skin symptoms more often than previously thought.

This study found that a more liberal intake of restricted amino acids in patients with methylmalonic acidemia resulted in improved growth and fewer illness episodes.

This study found that early diagnosis using gas chromatography/mass spectrometry and appropriate long-term treatment are crucial for improving outcomes in patients with methylmalonic acidemia.

The authors concluded that liver transplantation in children with propionic acidemia can reduce the risk of metabolic decompensation and enhance quality of life, although some metabolic issues may persist.

This case report describes a 10-month-old boy with dermatitis, alopecia, and hypotonia who showed dramatic improvement with oral biotin, suggesting a possible defect in biotin absorption or transport.