Management of adult-onset methylmalonic acidemia with hypotonia and acute respiratory failure: A case report.

Abstract excerpt

RATIONALE: Methylmalonic acidemia (MMA) is an autosomal recessive disease of organic acidemia. PATIENT CONCERNS: We report a 26-year-old male who presented with metabolic acidosis, acute renal failure required hemodialysis and acute respiratory failure required mechanical ventilation support. Progressive hypotonia of muscles made weaning from mechanical ventilator difficult. DIAGNOSES: High level of serum...

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