Article
Identification of three novel pathogenic mutations in cystathionine beta-synthase gene of Pakistani intellectually disabled patients.
Journal of pediatric endocrinology & metabolism : JPEM - 28 Mar 2022
Wasim Muhammad, Khan Haq N, Ayesha Hina, Iqbal Mazhar, Tawab Abdul, Irfan Muhammad, Kanhai Warsha, Goorden Susanna M I, Stroomer Lida, Salomons Gajja, Vaz Frederic M, Karnebeek Clara D M van, Awan Fazli R
Abstract excerpt
BACKGROUND: Classical homocystinuria (HCU) is an autosomal recessive inborn error of metabolism, which is caused by the cystathionine-β-synthase (CBS: encoded by CBS) deficiency. Symptoms of untreated classical HCU patients include intellectual disability (ID), ectopia lentis and long limbs, along with elevated plasma methionine, and homocysteine. METHODS: A total of 429 ID patients (age range: 1.6-23 years) were...
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