Long‐term outcome of urea cycle disorders: report from a nationwide study in Japan

2021 ◽  
Author(s):  
Jun Kido ◽  
Shirou Matsumoto ◽  
Johannes Häberle ◽  
Yoko Nakajima ◽  
Yoichi Wada ◽  
...  
Keyword(s):  
Urea Cycle ◽  
Urea Cycle Disorders ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Nationwide Study ◽  
Cycle Disorders

Long-term outcome and intervention of urea cycle disorders in Japan

2011 ◽  
Vol 35 (5) ◽  
pp. 777-785 ◽  
Author(s):  
Jun Kido ◽  
Kimitoshi Nakamura ◽  
Hiroshi Mitsubuchi ◽  
Toshihiro Ohura ◽  
Masaki Takayanagi ◽  
...  
Keyword(s):  
Urea Cycle ◽  
Urea Cycle Disorders ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Cycle Disorders

P015 Chronic liver involvement in urea cycle disorders on long term follow-up

2018 ◽  
Vol 50 (4) ◽  
pp. e364
Author(s):  
G. Ranucci ◽  
G. Cotugno ◽  
A. Liguori ◽  
S. Bernabei ◽  
B. Goffredo ◽  
...  
Keyword(s):  
Urea Cycle ◽  
Chronic Liver ◽  
Liver Involvement ◽  
Urea Cycle Disorders ◽  
Long Term Follow Up ◽  
Cycle Disorders

Long-term correction of urea cycle disorders

2001 ◽  
Vol 138 (1) ◽  
pp. S62-S71 ◽  
Author(s):  
Brendan Lee ◽  
John Goss
Keyword(s):  
Urea Cycle ◽  
Urea Cycle Disorders ◽  
Cycle Disorders

Long-term management of patients with urea cycle disorders

2001 ◽  
Vol 138 (1) ◽  
pp. S56-S61 ◽  
Author(s):  
Gerard T. Berry ◽  
Robert D. Steiner
Keyword(s):  
Urea Cycle ◽  
Urea Cycle Disorders ◽  
Cycle Disorders ◽  
Term Management

scholarly journals Clinical and Biochemical Profiles of Filipino Patients with Distal Urea Cycle Disorders Detected by Abnormal Expanded Newborn Screening

2020 ◽  
Vol 54 (4) ◽  
Author(s):  
Michelle E. Abadingo ◽  
Mary Ann R. Abacan ◽  
Mary Anne D. Chiong ◽  
Leniza G. De Castro-Hamoy
Keyword(s):  
Newborn Screening ◽  
Neurodevelopmental Outcome ◽  
Clinical Manifestations ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Expanded Newborn Screening ◽  
Biochemical Profiles ◽  
Cycle Disorders ◽  
Argininosuccinate Synthetase Deficiency

Objective. The study is a retrospective review which provides preliminary data on the correlation between biochemical profiles and initial clinical manifestation of patients diagnosed to have argininosuccinate synthetase deficiency (ASSD) and argininosuccinate lyase deficiency (ASLD) detected by expanded newborn screening (ENBS).Methods. This is a study of five distal UCD patients initially detected by elevated citrulline on ENBS. Medical charts of the patients were reviewed. The initial clinical manifestations of the patients were correlated with results of biochemical tests.Results. There were four cases of ASLD and one case of ASSD reviewed in this study. All cases of ASLD were confirmed by the presence of argininosuccinic acid (ASA) in the urine metabolic screen (UMS). The plasma citrulline level of the ASSD patient is significantly elevated as compared to the ASLD patients (2,690 µmol/L; NV: 10-45 µmol/L). The ASSD patient and one ASLD patient were symptomatic within the first six days of life. Both presented with significantly elevated plasma ammonia, citrulline and glutamine levels. Three ASLD patients were asymptomatic on initial screening.Conclusion. ENBS has shown importance in the early detection and management of ASSD and ASLD. Early initiation of management may prevent hyperammonemic crises. Long term outcome studies are needed to look into the correlation of neurodevelopmental outcome with lifelong accumulation of citrulline and glutamine in ASSD and ASA in ASLD.

scholarly journals Brain Biomarkers of Long-Term Outcome of Neonatal Onset Urea Cycle Disorder

2016 ◽  
Vol 2 (4) ◽  
pp. 10
Author(s):  
Maha Mourad ◽  
Johannes Häberle ◽  
Matthew Whitehead ◽  
Tamar Stricker ◽  
Andrea Gropman
Keyword(s):  
Urea Cycle ◽  
Urea Cycle Disorder ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Neonatal Onset

scholarly journals Brain Biomarkers of Long-term Outcome of Neonatal Onset Urea Cycle Disorder

2016 ◽  
Author(s):  
Maha Mourad ◽  
Johannes Häberle ◽  
Matthew Whitehead ◽  
Tamar Stricker ◽  
Andrea L. Gropman
Keyword(s):  
Urea Cycle ◽  
Ammonia Level ◽  
Long Term Effects ◽  
Inborn Errors ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Plasma Ammonia ◽  
Neonatal Onset ◽  
The Brain

Urea cycle disorders (UCDs) are common inborn errors of metabolism, with an incidence of one in 30,000 births. They are caused by deficiencies in any of six enzymes and two carrier proteins, the most common being Ornithine Transcarbamylase Deficiency (OTCD). OTCD results in impairment to excrete nitrogen, causing toxic buildup of ammonia with resultant encephalopathy. Hyperammonemia (HA) induces the conversion of glutamate to glutamine in the brain. Excess glutamine in the brain causes osmotic changes cerebral edema, changes in astrocyte morphology, and cell death. Acute symptoms of HA include vomiting, hyperventilation, seizures, and irritability. Long-term neurological changes include deficits in working memory and executive function. To date, there are no predictors of prognosis of infants with neonatal onset OTCD outside of plasma ammonia level at presentation and duration of hyperammonemic coma. We provide a comprehensive analysis of a 16-year-old male with neonatal onset of OTCD as an example of how brain biomarkers may be useful to monitor disease course and outcome. This male presented at 8 days post natal with plasma ammonia and glutamine of 677 and 4024 micromol/L and had a missense mutation in Exon 4 (p.R129H). Treatment included protein restriction, sodium benzoate, and citrulline, arginine, and iron. He suffered recurrent acute hyperammonemic episodes despite compliance, triggered by infections or catabolic stressors. We discuss the long-term effects of the hyperammonemic episodes by following MRI based disease biomarkers.

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