Identification of three novel pathogenic mutations in cystathionine beta-synthase gene of Pakistani intellectually disabled patients.
Pakistan
RP-HPLC-FLD
aminoacidopathies
classical homocystinuria
inborn errors of metabolism
mutations
Journal
Journal of pediatric endocrinology & metabolism : JPEM
ISSN: 2191-0251
Titre abrégé: J Pediatr Endocrinol Metab
Pays: Germany
ID NLM: 9508900
Informations de publication
Date de publication:
28 Mar 2022
28 Mar 2022
Historique:
received:
29
07
2021
accepted:
19
11
2021
pubmed:
15
12
2021
medline:
5
4
2022
entrez:
14
12
2021
Statut:
epublish
Résumé
Classical homocystinuria (HCU) is an autosomal recessive inborn error of metabolism, which is caused by the cystathionine-β-synthase (CBS: encoded by A total of 429 ID patients (age range: 1.6-23 years) were sampled from Northern areas of Punjab, Pakistan. Biochemical and genetic analyses were performed to find classical HCU disease in ID patients. Biochemically, nine patients from seven unrelated families were identified with high levels of plasma methionine and homocysteine. Targeted exonic analysis of With personalized treatment and care, such patients can reach their full potential of living as healthy a life as possible. This screening study is one of the pioneering initiatives in Pakistan which would help to minimize the burden of such treatable inborn errors of metabolism in the intellectually disabled patients.
Sections du résumé
BACKGROUND
BACKGROUND
Classical homocystinuria (HCU) is an autosomal recessive inborn error of metabolism, which is caused by the cystathionine-β-synthase (CBS: encoded by
METHODS
METHODS
A total of 429 ID patients (age range: 1.6-23 years) were sampled from Northern areas of Punjab, Pakistan. Biochemical and genetic analyses were performed to find classical HCU disease in ID patients.
RESULTS
RESULTS
Biochemically, nine patients from seven unrelated families were identified with high levels of plasma methionine and homocysteine. Targeted exonic analysis of
CONCLUSIONS
CONCLUSIONS
With personalized treatment and care, such patients can reach their full potential of living as healthy a life as possible. This screening study is one of the pioneering initiatives in Pakistan which would help to minimize the burden of such treatable inborn errors of metabolism in the intellectually disabled patients.
Identifiants
pubmed: 34905667
pii: jpem-2021-0508
doi: 10.1515/jpem-2021-0508
doi:
Substances chimiques
Cystathionine beta-Synthase
EC 4.2.1.22
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
325-332Informations de copyright
© 2021 Walter de Gruyter GmbH, Berlin/Boston.
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