Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies.
Mol Genet Metab Rep
; 1: 66-70, 2014.
Article
em En
| MEDLINE
| ID: mdl-27896076
ABSTRACT
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 ketogenic diet in this child demonstrated improvement in neurologic function and re-attainment of previously lost milestones. The diagnosis of TPK deficiency was difficult due to inconsistent biochemical and diagnostic parameters, rapidity of clinical demise and would not have been made in a timely manner without the use of whole exome sequencing. Molecular diagnosis allowed for attempt at dietary modification with cofactor supplementation which resulted in an improved clinical course.
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Base de dados:
MEDLINE
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
/
Prognostic_studies
Idioma:
En
Revista:
Mol Genet Metab Rep
Ano de publicação:
2014
Tipo de documento:
Article
País de afiliação:
Estados Unidos