Gamma-Hydroxybutyrate content in dried bloodspots facilitates newborn detection of succinic semialdehyde dehydrogenase deficiency.
Mol Genet Metab
; 128(1-2): 109-112, 2019.
Article
em En
| MEDLINE
| ID: mdl-31345667
Increased gamma-hydroxybutyric acid in urine and blood are metabolic hallmarks of succinic semialdehyde dehydrogenase deficiency, a defect of 4-aminobutyric acid metabolism. Here, we examined the hypothesis that succinic semialdehyde dehydrogenase deficiency could be identified via measurement of gamma-hydroxybutyric acid in newborn and post-newborn dried bloodspots. Quantitation of gamma-hydroxybutyric acid using liquid chromatography-tandem mass spectrometry in twelve archival newborn patient dried bloodspots was 360⯱â¯57⯵M (mean, standard error; range 111-767), all values exceeding the previously established cutoff for newborn detection of 78 µΜ established from 2831 dried bloodspots derived from newborns, neonates and children. Gamma-hydroxybutyric acid in post-newborn dried bloodspots (nâ¯=â¯19; ages 0.8-38â¯years) was 191⯱â¯65⯵M (mean, standard error; range 20-1218), exceeding the aforementioned GHB cutoff for patients approximately 10â¯years of age or younger. Further, gamma-hydroxybutyric acid in post-newborn dried bloodspots displayed a significant (pâ¯<â¯.0001) inverse correlation with age. This preliminary study suggests that succinic semialdehyde dehydrogenase deficiency may be identified in newborn and post-newborn dried bloodspots via quantitation of gamma-hydroxybutyric acid, while forming the platform for more extensive studies in affected and unaffected dried bloodspots.
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Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Oxibato de Sódio
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Deficiências do Desenvolvimento
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Triagem Neonatal
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Succinato-Semialdeído Desidrogenase
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Teste em Amostras de Sangue Seco
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Erros Inatos do Metabolismo dos Aminoácidos
Tipo de estudo:
Diagnostic_studies
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Prognostic_studies
Limite:
Adolescent
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Adult
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Child
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Child, preschool
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Female
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Humans
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Infant
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Male
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Newborn
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article