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A SLC16A1 Mutation in an Infant With Ketoacidosis and Neuroimaging Assessment: Expanding the Clinical Spectrum of MCT1 Deficiency

  • Published:2019-07-18 Issue: Volume:7 Page:
  • ISSN:2296-2360
  • Container-title:Frontiers in Pediatrics
  • language:
  • Short-container-title:Front. Pediatr.

Author:

Al-Khawaga Sara,AlRayahi Jehan,Khan Faiyaz,Saraswathi Saras,Hasnah Reem,Haris Basma,Mohammed Idris,Abdelalim Essam M.,Hussain Khalid

Publisher

Frontiers Media SA

Subject

Pediatrics, Perinatology, and Child Health

Reference40 articles.

1. Ketone bodies: a review of physiology, pathophysiology and application of monitoring to diabetes;Laffel;Diabetes Metab Res Rev,1999

2. Inborn errors of ketogenesis and ketone body utilization;Sass;J Inherit Metab Dis,2012

3. Diabetic ketoacidosis: evaluation and treatment;Westerberg;Am Fam Physician,2013

4. Succinyl-CoA: 3-ketoacid CoA-transferase deficiency. A cause for ketoacidosis in infancy;Tildon;J Clin Invest,1972

5. A “new” disorder of isoleucine catabolism;Daum;Lancet,1971

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