Is Expanded Newborn Screening Adequate to Detect Indian Biochemical Low Excretor Phenotype Patients of Glutaric Aciduria Type I?
Indian J Pediatr
; 86(11): 995-1001, 2019 11.
Article
em En
| MEDLINE
| ID: mdl-31302874
ABSTRACT
OBJECTIVE:
To investigate if expanded newborn screening using tandem mass spectroscopy (TMS) is adequate to detect low excretor phenotype in Indian Glutaric aciduria type I (GA-I) patients.METHODS:
Ten GA-I patients were investigated for blood glutaryl carnitine (C5DC) levels on dried blood spot (DBS) by tandem mass spectroscopy and urine glutaric acid (GA) and 3-hydroxyglutaric acid (3-OH-GA) by gas chromatography-mass spectroscopy. The student's T test and Pearson's correlation were applied to draw a relationship between various biochemical parameters. Further confirmation of low excretors by DNA mutation analysis in the glutaryl CoA dehydrogenase (GCDH) gene was performed by polymerase chain reaction and Sangers sequencing.RESULTS:
Among 10 GA-I patients, 7 patients were found to have high excretor, and 3 were found to have low excretor phenotype. The low excretors were found to have GCDH gene mutations. The mean C5DC levels in high and low excretors were 2.61 ± 2.02 µmol/L and 2.31 ± 1.00 µmol/L, respectively. In high excretors, C5DC levels correlated with GA (r = 0.95). In low excretors, C5DC levels correlated with 3-OH-GA (r = 0.99). No significant difference was found between C5DC levels of high and low excretors (p = 0.82).CONCLUSIONS:
The MS/MS, C5DC screening is a sensitive technique and detected 10 GA-I patients. Irrespective of the urine organic acid levels, Indian GA-I patients including low excretors seem to have a significantly elevated C5DC level and well above the stipulated cut-off values and therefore, expanded newborn screening is probably adequate to diagnose them.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Fenótipo
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Triagem Neonatal
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Glutaril-CoA Desidrogenase
Tipo de estudo:
Diagnostic_studies
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Screening_studies
Limite:
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
País/Região como assunto:
Asia
Idioma:
En
Revista:
Indian J Pediatr
Ano de publicação:
2019
Tipo de documento:
Article
País de afiliação:
Índia