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

• Main Authors: Sara Al-Khawaga (Author), Jehan AlRayahi (Author), Faiyaz Khan (Author), Saras Saraswathi (Author), Reem Hasnah (Author), Basma Haris (Author), Idris Mohammed (Author), Essam M. Abdelalim (Author), Khalid Hussain (Author)
• Format: Book
• Published: Frontiers Media S.A., 2019-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...