TY - CHAP M1 - Book, Section TI - Multiple Carboxylase Deficiency A1 - Bissonnette, Bruno A1 - Luginbuehl, Igor A1 - Engelhardt, Thomas Y1 - 2019 N1 - T2 - Syndromes: Rapid Recognition and Perioperative Implications, 2e AB - It is an inborn error of metabolism present in the neonatal period and characterized by tachypnea or Kussmaul breathing, hypotonia, and seizures. It is characterized by severe metabolic acidosis with ketosis and hyperammonemia. If present during infancy and childhood, the clinical symptoms include lethargy, muscle hypotonia, seizures, ataxia; apnea/hyperventilation, and frequent stridor. The prognosis is good (both forms), if biotin therapy is introduced early and continued throughout life. Delayed therapy can result in irreversible neurological damage, coma, and death. The recommended dose to treat profound biotinidase deficiency is usually sufficient with 10 mg/day or less; however, it must be assessed individually. Doses up to 100 mg/day of biotin may be necessary. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1164079565 ER -