نتایج جستجو برای: urea cycle disorders
تعداد نتایج: 967162 فیلتر نتایج به سال:
Arginase deficiency is caused by deficiency of arginase 1 (ARG1), a urea cycle enzyme that converts arginine to ornithine. Clinical features of arginase deficiency include elevated plasma arginine levels, spastic diplegia, intellectual disability, seizures and growth deficiency. Unlike other urea cycle disorders, recurrent hyperammonemia is typically less severe in this disorder. Normalization ...
Children with urea cycle disorders present with hyperammonaemia and its non-specific symptoms. Acute hyperammonaemia is a medical emergency as the developmental and neurological outcome depends on the duration of hyperammonaemic coma [1]. The longer endogenous protein catabolism continues, the more ammonia will be produced and accumulate and the greater is the risk of coma. To minimize permanen...
Dear Editor, H y p e r o r n i t h i n a e m i a h y p e r a m m o n a e m i a homocitrullinuria (HHH) syndrome (OMIM #238970) is a rare autosomal recessive disorder associated with mutations of the SLC25A15 gene which encodes the mitochondrial ornithine transporter 1 (ORNT1).1 ORNT1 is responsible for the transport of cytosolic ornithine into the mitochondria in exchange for citrulline in the ...
BACKGROUND Implementation of guidelines and assessment of their adaptation is not an extensively investigated process in the field of rare diseases. However, whether targeted recipients are reached and willing and able to follow the recommendations has significant impact on the efficacy of guidelines. In 2012, a guideline for the management of urea cycle disorders (UCDs) has been published. We ...
Molecular testing for a specific metabolic disorder remains the gold standard due to its high specificity and sensitivity and possibility of accurate prenatal diagnosis. We report four cases of urea cycle defect where mutational analysis of the involved genes was performed and subsequently, prenatal diagnosis could be offered to one of the family.
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