Multiple Carboxylase Deficiency in an Infant Presenting With Severe Metabolic Acidosis and Sepsis-Like Features: A Case Report and Literature Review

June 2026 in “ Clinical Case Reports ”

Touqeer Rehman, Riyan Saeed, Muhammad Ahmed Akif Rauf, Luqman Asif, Muhammad Junaid, Mohmmad Khalid, Rao Nouman Ali, Umair Ali, Fred Segawa

multiple carboxylase deficiency biotin metabolism disorder biotin metabolic acidosis hair loss eczema organic acids

TLDR Early recognition and treatment of multiple carboxylase deficiency with biotin can prevent serious health issues in infants.

This case report discusses a 4-month-old infant with multiple carboxylase deficiency (MCD), a rare biotin metabolism disorder, presenting with seizures, eczematous rash, hair loss, and severe metabolic acidosis, initially resembling sepsis. Although confirmatory tests were unavailable, elevated urine organic acids suggested MCD. Treatment with biotin (10 mg/day) led to rapid recovery, underscoring the importance of early recognition and treatment of biotin-responsive disorders to prevent serious health issues. The report emphasizes considering MCD in infants with unexplained metabolic acidosis for timely, potentially lifesaving intervention.

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