Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies

Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies

We present a sibling pair with Leigh-like disease, progressive hypotonia, regression, and chronic encephalopathy. Whole exome sequencing in the younger sibling demonstrated a homozygous thiamine pyrophosphokinase (TPK) mutation. Initiation of high dose thiamine, niacin, biotin, α-lipoic acid and ket...

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Bibliographic Details
Main Authors: Jamie L. Fraser, Adeline Vanderver, Sandra Yang, Taeun Chang, Laura Cramp, Gilbert Vezina, Uta Lichter-Konecki, Kristina P. Cusmano-Ozog, Patroula Smpokou, Kimberly A. Chapman, Dina J. Zand
Format: Article
Language:English
Published: Elsevier 2014-01-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Thiamine pyrophosphokinase
Leigh-like disease
α-Ketoglutarate
Thiamine
Mitochondrial disorder
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426914000147

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http://www.sciencedirect.com/science/article/pii/S2214426914000147

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