IEM - Disorders presenting in late infancy and childhood (1)

About this episode

This episode discusses various disorders presenting in late infancy and childhood, focusing on inborn errors of metabolism.

Disorders discussed: - Glucose transporter type 1 deficiency syndrome (Glut1DS) - Mitochondrial disorders - Cerebral creatine deficiency syndromes - Congenital disorders of glycosylation 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: Jasmine Parihar MBBS Producer: Irfan S. Sheikh MD

People in this episode

Guest: Jasmine Parihar MBBS

Topics covered

• Glucose transporter type 1 deficiency syndrome
• Mitochondrial disorders
• Cerebral creatine deficiency syndromes
• Congenital disorders of glycosylation
• Inborn errors of metabolism
• Seizures
• Electroencephalographic findings

Keywords

• Glut1DS
• mitochondrial disorders
• cerebral creatine deficiency
• glycosylation disorders
• seizures
• EEG findings
• infancy
• childhood

Mentioned in this episode

Organizations: Epileptic Disord, Kapoor D, Sharma S, Kaminska A, Nabbout R, Chemaly N, Schiff M, De Lonlay P, Eisermann M

Books & works: 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

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