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

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

The solute carrier family 16 member 1 (SLC16A1) gene encodes for monocarboxylate transporter 1 (MCT1) that mediates the movement of monocarboxylates, such as lactate and pyruvate across cell membranes. Inactivating recessive homozygous or heterozygous mutations in the SLC16A1 gene were described in...

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Bibliographic Details
Main Authors: Sara Al-Khawaga, Jehan AlRayahi, Faiyaz Khan, Saras Saraswathi, Reem Hasnah, Basma Haris, Idris Mohammed, Essam M. Abdelalim, Khalid Hussain
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-07-01
Series:Frontiers in Pediatrics
Subjects:
SLC16A1
MCT1
ketoacidosis
hypoglycemia
heterotopia
white matter disease
Online Access:https://www.frontiersin.org/article/10.3389/fped.2019.00299/full

Internet

https://www.frontiersin.org/article/10.3389/fped.2019.00299/full

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