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

Touqeer Rehman1, Riyan Saeed2, Muhammad Ahmed Akif Rauf3

  • 1Ayub Medical College Abbottabad Pakistan.

Clinical Case Reports
|June 25, 2026
PubMed

Insights

Multiple carboxylase deficiency (MCD) is a rare biotin metabolism disorder. Early biotin treatment rapidly improved a 4-month-old infant

Area of Science:

  • Biochemistry
  • Pediatrics
  • Genetics

Background:

  • Multiple carboxylase deficiency (MCD) is a rare, treatable inborn error of biotin metabolism.
  • It can present in infants with life-threatening metabolic crises.

Purpose of the Study:

  • To report a case of MCD presenting in a 4-month-old infant.
  • To highlight the importance of early recognition and treatment of biotin-responsive metabolic disorders.

Main Methods:

  • Clinical case presentation.
  • Urine organic acid analysis to identify characteristic metabolites.
  • Treatment with biotin supplementation.

Main Results:

  • The infant presented with seizures, rash, alopecia, and metabolic acidosis, mimicking sepsis.
  • Urine organic acids indicated MCD.
  • Prompt biotin therapy led to rapid clinical and biochemical recovery.

Conclusions:

  • MCD should be considered in infants with the triad of seizures, dermatitis, and alopecia, especially with metabolic acidosis.
  • Early diagnosis and biotin treatment are crucial for preventing morbidity and neurological sequelae.
  • Timely intervention in biotin-responsive disorders can be lifesaving.

Keywords:
biotinidase enzyme dysfunction of deficiencycase reportinfantmetabolic acidosismetabolic disordermultiple carboxylase deficiency

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