2 citations
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August 2004 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.
49 citations
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July 1994 in “British journal of dermatology/British journal of dermatology, Supplement” 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.
August 2023 in “Dermatology reports” This case study of a 2-month-old boy with maple syrup urine disease highlights the dangers of restricting branched-chain amino acid intake, as it led to acrodermatitis dysmetabolica-like skin eruptions and hair loss, later resolved with careful dietary adjustments and monitoring.
June 2026 in “Clinical Case Reports” This case report describes a 4-month-old child with symptoms suggesting multiple carboxylase deficiency, which responded well to biotin therapy, highlighting the importance of early diagnosis and treatment to prevent serious health issues in infants with similar unexplained metabolic acidosis and symptoms.
18 citations
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June 2016 in “Clinical and Experimental Dermatology” This case study reports that an infant with maple syrup urine disease developed acrodermatitis dysmetabolica due to low isoleucine levels, and increasing the isoleucine dose improved the condition.