beta-ureidopropionase deficiency

A rare autosomal recessive condition (OMIM:613161) characterised by muscular hypotonia, dystonic movement, scoliosis, microcephaly and severe developmental delay.
Lab
Markedly elevated N-carbamyl-beta-alanine and N-carbamyl-beta-aminoisobutyric acid in plasma, CSF and urine.
Molecular pathology
Defects of UPB1, which encodes beta-ureidopropionase, a catalyst for the last step in the pyrimidine degradation pathway, cause beta-ureidopropionase deficiency.

单词	beta-ureidopropionase deficiency
释义	beta-ureidopropionase deficiency beta-ureidopropionase deficiency A rare autosomal recessive condition (OMIM:613161) characterised by muscular hypotonia, dystonic movement, scoliosis, microcephaly and severe developmental delay. Lab Markedly elevated N-carbamyl-beta-alanine and N-carbamyl-beta-aminoisobutyric acid in plasma, CSF and urine. Molecular pathology Defects of UPB1, which encodes beta-ureidopropionase, a catalyst for the last step in the pyrimidine degradation pathway, cause beta-ureidopropionase deficiency.
随便看	quizzes her on quizzes him about quizzes him on quizzes me about quizzes me on quizzes on quizzes one about quizzes one on quizzes out quizzes out of quizzes them about quizzes them on quizzes us about quizzes us on quizzes you about quizzes you on quizzical quizzicality quizzically quizzicalness quizzification quizzify quizziness quizzing quizzing glass