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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Vydáno v:Front Pediatr
Hlavní autoři: Al-Khawaga, Sara, AlRayahi, Jehan, Khan, Faiyaz, Saraswathi, Saras, Hasnah, Reem, Haris, Basma, Mohammed, Idris, Abdelalim, Essam M., Hussain, Khalid
Médium: Artigo
Jazyk:Inglês
Vydáno: Frontiers Media S.A. 2019
Témata:
Pediatrics
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6657212/
https://ncbi.nlm.nih.gov/pubmed/31380330
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2019.00299
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