Pyruvate dehydrogenase deficiency disease detected by the enzyme activity of peripheral leukocytes.
Mol Genet Genomic Med
; 9(8): e1728, 2021 08.
Article
em En
| MEDLINE
| ID: mdl-34156167
ABSTRACT
BACKGROUND:
Pyruvate dehydrogenase complex (PDHC) deficiency is a common neurodegenerative disease associated with abnormal mitochondrial energy metabolism. The diagnosis of PDHC is difficult because of the lack of a rapid, accurate, and cost-effective clinical diagnostic method.METHODS:
A 4-year-old boy was preliminarily diagnosed with putative Leigh syndrome based on the clinical presentation. PDHC activity in peripheral blood leukocytes and a corresponding gene analysis were subsequently undertaken. Sodium pyruvate 1-13 C was used for the analysis of PDHC activity in peripheral leukocytes. The genes encoding PDHC were then scanned for mutations.RESULTS:
The results showed that the corresponding PDHC activity was dramatically decreased to 10.5 nmol/h/mg protein as compared with that of healthy controls (124.6 ± 7.1 nmol/h/mg). The ratio of PDHC to citrate synthase was 2.1% (control 425.3 ± 27.1). The mutation analysis led to the identification of a missense mutation, NM_000284.4g214C>T, in exon 3 of PDHC.CONCLUSION:
The peripheral blood leukocyte PDHC activity assay may provide a practical enzymatic diagnostic method for PDHC-related mitochondrial diseases.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Complexo Piruvato Desidrogenase
/
Doença da Deficiência do Complexo de Piruvato Desidrogenase
/
Ensaios Enzimáticos Clínicos
/
Leucócitos
Tipo de estudo:
Prognostic_studies
Limite:
Child, preschool
/
Humans
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Male
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article