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

<p dir="ltr">The solute carrier family 16 member 1 (<i>SLC16A1</i>) 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...

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Bibliographic Details
Main Author: Sara Al-Khawaga (4792761) (author)
Other Authors: Jehan AlRayahi (17346976) (author), Faiyaz Khan (5125442) (author), Saras Saraswathi (612858) (author), Reem Hasnah (14778937) (author), Basma Haris (12040355) (author), Idris Mohammed (751020) (author), Essam M. Abdelalim (5768072) (author), Khalid Hussain (110443) (author)
Published: 2019
Subjects:
Biomedical and clinical sciences
Paediatrics
SLC16A1
MCT1
ketoacidosis
hypoglycemia
heterotopia
white matter disease
gray matter disease
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