Improvement in Growth and Developmental Milestones with Nutritional Intervention in Methylmalonic Acidemia: A Case Report

Introduction: methylmalonic acidemia (MMA) is a metabolic disorder and especial nutritional support has an important role in improvement of growth and development in these patients. Case presentation: A 3-month old female infant with known MMA was admitted to emergency department of Dr Sheikh Children Hospital with primary diagnosis of pneumonia and sepsis .This patient was a full term baby; MMA was diagnosed at 3th day of her life after several episodes of tachypnea, lethargia, poor feeding and irritability. After patient was stabilized, she was referred to nutritional support team for specialized MMA medical nutritional therapy. The patient’s growth and development improved  significantly after 2 months of follow up.

کلیدواژه ها:

Diet ، methylmalonic acidemia ، Nutrition