1038 Urea Cycle Defects- Misdiagnoses and Wrong Diagnoses
نویسندگان
چکیده
منابع مشابه
Mutation analysis of Indian patients with urea cycle defects.
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.
متن کاملUrea cycle disorders.
Most patients with urea cycle disorders who present as neonates, do so with deteriorating feeding, drowsiness and tachypnoea, following a short initial period when they appear well. The plasma ammonia should be measured at the same time as the septic screen in such patients. Ammonia levels above 200 micromol/l are usually caused by inherited metabolic diseases and it is essential to make a diag...
متن کاملUrea Cycle Disorder
RATIONALE. With no effective clearance system for ammonia, levels increase rapidly, resulting in cerebral edema with severe neurologic compromise. Dialysis is the only means of rapid removal of ammonia from blood in acute neonatal hyperammonemia, and hemodialysis is preferred over peritoneal dialysis because it is much more effective. If hemodialysis is not available, hemofiltration can be used...
متن کاملThe Urea Cycle
Convention terminology. There follows a compilation of numerical abnormalities of chromosome constitution, again in order 1 to 22, X and Y. There is a table of syndromes associated with breakage syndromes. Associations of chromosome anomalies and cancer cell lines have been excluded. The preface contains seven tables, listing chromosome involved in polymorphisms, breakage, and aneuploidy syndro...
متن کاملMagnetic resonance imaging findings and neurodevelopmental outcomes in neonates with urea-cycle defects
The urea-cycle functions to facilitate ammonia excretion, a disruption of which results in the accumulation of toxic metabolites. The neurological outcome of neonatal-onset urea-cycle defects (UCDs) is poor, and there are no good predictors of prognosis beyond ammonia levels at presentation. The role of neuroimaging in the prognosis of neonatal-onset UCDs is unclear. We describe the magnetic re...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 2012
ISSN: 0003-9888,1468-2044
DOI: 10.1136/archdischild-2012-302724.1038