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.
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June 2020 in “Medicine” This report discusses a 22-year-old patient with MELAS syndrome carrying the m.10158T>C mutation, and highlights the need for extensive genetic testing when initial hot-spot mutation tests are negative.
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December 1987 in “Archives of Dermatology” This review discusses two genetic disorders affecting biotin metabolism, each resulting in distinctive skin and hair manifestations, and outlines the associated serious metabolic complications.
March 2022 in “International Journal of Current Science Research and Review” This article describes subclinical ketosis in pregnant cows and associates it with several metabolic changes and clinical signs, reporting decreased levels of hemoglobin and glucose and increased ketone bodies.
Hair can show daily calcium changes, linked to body calcium levels and influenced by hormones, and can help assess calcium metabolism issues.