Thiamine Pyrophosphokinase Deficiency due to Mutations in the TPK1 Gene: A Rare, Treatable Neurodegenerative Disorder.

Autor:	Rüsch CT; Division of Pediatric Neurology and Children's Research Center, University Children's Hospital Zurich, Zürich, Switzerland., Wortmann SB; Institute of Human Genetics, Technische Universität München, München, Germany.; Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Amalia Children's Hospital, Radboudumc, Nijmegen, The Netherlands.; Paracelcus Medical University (PMU), University Children's Hospital, Salzburg, Austria., Kovacs-Nagy R; Institute of Human Genetics, Technische Universität München, München, Germany.; Department of Molecular Biology, Institute of Biochemistry and Molecular Biology, Semmelweis University, Budapest, Hungary., Grehten P; Department of Diagnostic Imaging and Children's Research Center, University Children's Hospital Zurich, Zürich, Switzerland., Häberle J; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zürich, Switzerland., Latal B; Division of Child Department and Children's Research Center, University Children's Hospital Zurich, Zürich, Switzerland., Stettner GM; Division of Pediatric Neurology and Children's Research Center, University Children's Hospital Zurich, Zürich, Switzerland.
Jazyk:	angličtina
Zdroj:	Neuropediatrics [Neuropediatrics] 2021 Apr; Vol. 52 (2), pp. 126-132. Date of Electronic Publication: 2020 Nov 23.
DOI:	10.1055/s-0040-1715628
Abstrakt:	TPK deficiency due to TPK1 mutations is a rare neurodegenerative disorder, also known as thiamine metabolism dysfunction syndrome 5 (OMIM no.: 614458). Here, we report a new patient with compound heterozygous TPK1 mutations, of which one has not been described so far. The individual reported here suffered from acute onset encephalopathy, ataxia, muscle hypotonia, and regression of developmental milestones in early infancy, repeatedly triggered by febrile infections. Initiation of high-dose thiamine and magnesium supplementation led to a marked and sustained improvement of alertness, ataxia, and muscle tone within days. Contrary to the described natural history of patients with TPK deficiency, the disease course was favorable under thiamine treatment without deterioration or developmental regression during the follow-up period. TPK deficiency is a severe neurodegenerative disease. This case report demonstrates that this condition is potentially treatable. High-dose thiamine treatment should therefore be initiated immediately after diagnosis or even upon suspicion. Competing Interests: Disclosure The authors report no conflicts of interest in this work. (Thieme. All rights reserved.)
Databáze:	MEDLINE
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