2014 |
Chen, B C; Rawi, Mohd R; Meinsma, R; Meijer, J; Hennekam, R C M; Kuilenburg, Van A B P Dihydropyrimidine dehydrogenase deficiency in two Malaysian siblings with abnormal MRI findings Journal Article Molecular Syndromology, 5 (6), pp. 299-303, 2014, ISSN: 16618769, (cited By 4). Abstract | Links | BibTeX | Tags: Alanine, Article, Asymptomatic Disease, Autism, Autosomal Recessive Disorder, Case Report, Cerebellum Atrophy, Children, Creatinine, Dihydropyrimidine Dehydrogenase, Dihydropyrimidine Dehydrogenase Deficiency, Disease Severity, DPYD Gene, Eye Malformation, Female, Gene, Gene Mutation, Homozygosity, Human, Intellectual Impairment, Malaysian, Male, Microcephaly, Muscle Hypotonia, Nuclear Magnetic Resonance Imaging, Preschool Child, Pyrimidine, Pyrimidine Metabolism, School Child, Seizure, Sequence Analysis, Sibling, Threonine, Thymine, Uracil @article{Chen2014299, title = {Dihydropyrimidine dehydrogenase deficiency in two Malaysian siblings with abnormal MRI findings}, author = {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&partnerID=40&md5=1ebfb9aedb7cb64e3423811b41b6aa7c}, doi = {10.1159/000366074}, issn = {16618769}, year = {2014}, date = {2014-01-01}, journal = {Molecular Syndromology}, volume = {5}, number = {6}, pages = {299-303}, publisher = {S. Karger AG}, abstract = {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, including intellectual disability, seizures, microcephaly, autistic behavior, and eye abnormalities. Here, 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 and 578 mmol/mol creatinine, respectively) and thymine (425 and 427 mmol/mol creatinine, respectively). Sequence analysis of the DPYD gene showed that both siblings were homozygous for the mutation c.1651G>A (pAla551Thr). © 2014 S. Karger AG, Basel.}, note = {cited By 4}, keywords = {Alanine, Article, Asymptomatic Disease, Autism, Autosomal Recessive Disorder, Case Report, Cerebellum Atrophy, Children, Creatinine, Dihydropyrimidine Dehydrogenase, Dihydropyrimidine Dehydrogenase Deficiency, Disease Severity, DPYD Gene, Eye Malformation, Female, Gene, Gene Mutation, Homozygosity, Human, Intellectual Impairment, Malaysian, Male, Microcephaly, Muscle Hypotonia, Nuclear Magnetic Resonance Imaging, Preschool Child, Pyrimidine, Pyrimidine Metabolism, School Child, Seizure, Sequence Analysis, Sibling, Threonine, Thymine, Uracil}, pubstate = {published}, tppubtype = {article} } 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, including intellectual disability, seizures, microcephaly, autistic behavior, and eye abnormalities. Here, 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 and 578 mmol/mol creatinine, respectively) and thymine (425 and 427 mmol/mol creatinine, respectively). Sequence analysis of the DPYD gene showed that both siblings were homozygous for the mutation c.1651G>A (pAla551Thr). © 2014 S. Karger AG, Basel. |
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2014 |
Dihydropyrimidine dehydrogenase deficiency in two Malaysian siblings with abnormal MRI findings Journal Article Molecular Syndromology, 5 (6), pp. 299-303, 2014, ISSN: 16618769, (cited By 4). |