@artikel{Chen2014299,
tajuk = {Dihydropyrimidine dehydrogenase deficiency in two Malaysian siblings with abnormal MRI findings},
pengarang = {B C Chen and R Mohd Rawi and R Meinsma and J Meijer and R C M Hennekam and A B P Van Kuilenburg},
url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84919783242&doi=10.1159%2f000366074&rakan kongsi = 40&md5=1ebfb9aedb7cb64e3423811b41b6aa7c},
doi = {10.1159/000366074},
terbitan = {16618769},
tahun = {2014},
tarikh = {2014-01-01},
jurnal = {Molecular Syndromology},
isi padu = {5},
nombor = {6},
halaman = {299-303},
penerbit = {S. Karger AG},
abstrak = {Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disorder of the pyrimidine metabolism. Deficiency of this enzyme leads to an accumulation of thymine and uracil and a deficiency of metabolites distal to the catabolic enzyme. The disorder presents with a wide clinical spectrum, ranging from asymptomatic to severe neurological manifestations, termasuk kecacatan intelektual, seizures, microcephaly, autistic behavior, and eye abnormalities. Di sini, we report on an 11-year-old Malaysian girl and her 6-year-old brother with DPD deficiency who presented with intellectual disability, microcephaly, and hypotonia. Brain MRI scans showed generalized cerebral and cerebellar atrophy and callosal body dysgenesis in the boy. Urine analysis showed strongly elevated levels of uracil in the girl and boy (571 dan 578 mmol/mol creatinine, masing-masing) and thymine (425 dan 427 mmol/mol creatinine, masing-masing). Sequence analysis of the DPYD gene showed that both siblings were homozygous for the mutation c.1651G>A (pAla551Thr). © 2014 S. Karger AG, Basel.},
nota = {dipetik oleh 4},
kata kunci = {Alanine, Artikel, Asymptomatic Disease, Autisme, Autosomal Recessive Disorder, Laporan kes, Cerebellum Atrophy, Anak-anak, Creatinine, Dihydropyrimidine Dehydrogenase, Dihydropyrimidine Dehydrogenase Deficiency, Keterukan Penyakit, DPYD Gene, Eye Malformation, Perempuan, Gen, Gene Mutation, Homozygosity, Manusia, Kemerosotan Intelektual, Orang Malaysia, Lelaki, Microcephaly, Muscle Hypotonia, Nuclear Magnetic Resonance Imaging, Kanak-kanak Prasekolah, Pyrimidine, Pyrimidine Metabolism, Budak sekolah, Seizure, Sequence Analysis, Sibling, Threonine, Thymine, Uracil},
pubstate = {diterbitkan},
tppubtype = {artikel}
}