IEM - Disorders presenting in the neonatal period or in early infancy (2) episode artwork

EPISODE · Mar 6, 2026 · 9 MIN

IEM - Disorders presenting in the neonatal period or in early infancy (2)

from Epileptic Disorders Podcast: Weekly Digest · host EPDInternship

Disorders discussed: Disorders of amino acid metabolism and disorders involving sulfur-containing amino acid metabolism - Glycine encephalopathy (nonketotic hyperglycemia) - Serine biosynthesis disorders - Molybdenum cofactor deficiency and sulfite oxidase deficiency    Article reference: Kapoor D, Sharma S, Kaminska A, Nabbout R, Chemaly N, Schiff M, De Lonlay P, Eisermann M. Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature. Epileptic Disord. 2025 Oct;27(5):745-802.   https://onlinelibrary.wiley.com/doi/10.1002/epd2.70065   Speaker: Helena Barbosa Horta Santos MD Producer: Irfan S. Sheikh MD

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IEM - Disorders presenting in the neonatal period or in early infancy (2)

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