TY - CHAP M1 - Book, Section TI - Methylmalonic Acidemia (MMA) A1 - Bissonnette, Bruno A1 - Luginbuehl, Igor A1 - Engelhardt, Thomas PY - 2019 T2 - Syndromes: Rapid Recognition and Perioperative Implications, 2e AB - It is a heterogeneous inborn error of metabolism affecting amino acid metabolism, leading to metabolic acidosis and accumulation of methylmalonic acid (MMA) and its by-products. The onset of the disease is during infancy after a normal newborn period. Clinically, it is characterized by seizures and stroke. The symptoms begins when the infant is fed with protein, which causes progressive encephalopathy, developmental delay, failure to thrive, lethargy, recurrent yeast infections, severe vomiting, and dehydration. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/19 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1164078608 ER -