scholarly journals The Molecular Aspect of Nephrolithiasis Development

Cells ◽  
2021 ◽  
Vol 10 (8) ◽  
pp. 1926
Author(s):  
Paulina Wigner ◽  
Radosław Grębowski ◽  
Michal Bijak ◽  
Janusz Szemraj ◽  
Joanna Saluk-Bijak
Keyword(s):  
Kidney Stones ◽  
Dietary Habits ◽  
Urea Cycle ◽  
Purine Metabolism ◽  
Occurrence Rate ◽  
Ros Generation ◽  
Reduced Physical Activity ◽  
Cycle Disorders ◽  
Tract Infections ◽  
Prostate Diseases

Urolithiasis is the third most common urological disease after urinary tract infections and prostate diseases, and it is characterised by an occurrence rate of about 15%, which continues to rise. The increase in the incidence of kidney stones observed in recent decades, is most likely caused by modifications in dietary habits (high content of protein, sodium and sugar diet) and lifestyle (reduced physical activity) in all industrialised countries. Moreover, men are more likely than women to be diagnosed with kidney stones. A growing body of evidence suggests that inflammation, oxidant–antioxidant imbalance, angiogenesis, purine metabolism and urea cycle disorders may play a crucial role in nephrolithiasis development. Patients with urolithiasis were characterised by an increased level of reactive oxygen species (ROS), the products of lipid peroxidation, proinflammatory cytokines as well as proangiogenic factors, compared to controls. Furthermore, it has been shown that deficiency and disorders of enzymes involved in purine metabolism and the urea cycle might be causes of deposit formation. ROS generation suggests that the course of kidney stones might be additionally potentiated by inflammation, purine metabolism and the urea cycle. On the other hand, ROS overproduction may induce activation of angiogenesis, and thus, allows deposit aggregation.

Mutation analysis of urea cycle disorders

2016 ◽  
Vol 04 (01) ◽  
pp. 033-043
Author(s):  
Johannes Häberle ◽  
Véronique Rüfenacht
Keyword(s):  
Mutation Analysis ◽  
Urea Cycle ◽  
Urea Cycle Disorders ◽  
Cycle Disorders

Retrospective evaluation of 85 patients with urea cycle disorders: one center experience, three new mutations

2020 ◽  
Vol 33 (6) ◽  
pp. 721-728
Author(s):  
Özlem Saritaş Nakip ◽  
Yılmaz Yıldız ◽  
Ayşegül Tokatlı
Keyword(s):  
Mortality Rate ◽  
Urea Cycle ◽  
Laboratory Data ◽  
Patient Characteristics ◽  
Hereditary Diseases ◽  
Urea Cycle Disorders ◽  
Carbamoyl Phosphate ◽  
Term Survival ◽  
Genetic Features ◽  
Cycle Disorders

AbstractObjectivesUrea cycle disorders (UCDs) are rare hereditary diseases. This study was conducted to help identify the characteristics of UCDs in Turkey.MethodsThe primary outcome was to determine patient characteristics. Investigating the relationships between the patient outcomes and ammonia levels were the secondary outcomes. Eighty five patients from 79 families, diagnosed with UCD at a single metabolic referral center between 1979 and 2017, were included. Clinical and laboratory data were retrieved retrospectively from hospital records.ResultsClassical citrullinemia was the most common type of UCD; citrin deficiency and carbamoyl phosphate synthase 1 deficiency (CPS1D) were the rarest. One thirty one hyperammonemic episodes were recorded. The peak ammonia levels were found to be significantly associated with polycythemia and hypocalcemia at presentation. The median peak ammonia values of the patients who died were higher than those of the survivors. The highest mortality rate was in the classical citrullinemia group. The mortality rate of the first hyperammonemic crisis was 28.6%, while it was 6.7% in subsequent episodes with an odds ratio of 4.28 (95% CI: 1.67–11.0) (p=0.001). Forty-four patients underwent genetic analysis and genetic variants were detected in 42 patients (95%). Three of the detected variants have not been previously reported.ConclusionsThis is the largest UCD series in Turkey and may serve as a guide to clinical, biochemical and genetic features of UCDs in our country. Prevention of hyperammonemia may be the most influential measure to improve long term survival.

Biomarkers for liver disease in urea cycle disorders

2021 ◽  
Author(s):  
Sandesh C.S. Nagamani ◽  
Saima Ali ◽  
Rima Izem ◽  
Deborah Schady ◽  
Prakash Masand ◽  
...  
Keyword(s):  
Liver Disease ◽  
Urea Cycle ◽  
Urea Cycle Disorders ◽  
Cycle Disorders

scholarly journals Neuropsychological attributes of urea cycle disorders: A systematic review of the literature

2019 ◽  
Vol 42 (6) ◽  
pp. 1176-1191 ◽  
Author(s):  
Susan E. Waisbren ◽  
Arianna K. Stefanatos ◽  
Teresa M. Y. Kok ◽  
Burcu Ozturk‐Hismi
Keyword(s):  
Systematic Review ◽  
Urea Cycle ◽  
Urea Cycle Disorders ◽  
Review Of The Literature ◽  
Cycle Disorders

Urea Cycle Disorders: Clinical Presentation Outside the Newborn Period

2005 ◽  
Vol 21 (4) ◽  
pp. S9-S17 ◽  
Author(s):  
Wendy Smith ◽  
Priya S. Kishnani ◽  
Brendan Lee ◽  
Rani H. Singh ◽  
William J. Rhead ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Urea Cycle ◽  
Urea Cycle Disorders ◽  
Newborn Period ◽  
Cycle Disorders

scholarly journals Ammonia control in children with urea cycle disorders (UCDs); Phase 2 comparison of sodium phenylbutyrate and glycerol phenylbutyrate

2011 ◽  
Vol 103 (4) ◽  
pp. 323-329 ◽  
Author(s):  
Uta Lichter-Konecki ◽  
G.A. Diaz ◽  
J.L. Merritt ◽  
A. Feigenbaum ◽  
C. Jomphe ◽  
...  
Keyword(s):  
Urea Cycle ◽  
Urea Cycle Disorders ◽  
Phase 2 ◽  
Cycle Disorders ◽  
Sodium Phenylbutyrate

scholarly journals Identification of rare variants causing urea cycle disorders: A clinical, genetic, and biophysical study

2021 ◽  
Vol 25 (8) ◽  
pp. 4099-4109
Author(s):  
Fang Liu ◽  
Li‐sha Bao ◽  
Ru‐jia Liang ◽  
Xiao‐ying Zhao ◽  
Zhi Li ◽  
...  
Keyword(s):  
Rare Variants ◽  
Urea Cycle ◽  
Urea Cycle Disorders ◽  
Clinical Genetic ◽  
Biophysical Study ◽  
Cycle Disorders

Arginase Deficiency Presenting as Cerebral Palsy

PEDIATRICS ◽  
1993 ◽  
Vol 91 (5) ◽  
pp. 995-996
Author(s):  
ANGELA E. SCHEUERLE ◽  
ROBERT MCVIE ◽  
ARTHUR L. BEAUDET ◽  
STUART K. SHAPIRA
Keyword(s):  
Cerebral Palsy ◽  
Autosomal Recessive ◽  
Urea Cycle ◽  
Case Reports ◽  
Growth Failure ◽  
Autosomal Recessive Disorder ◽  
Psychomotor Retardation ◽  
Uncomplicated Pregnancy ◽  
Arginase Deficiency ◽  
Cycle Disorders

Arginase catalyzes the conversion of arginine to ornithine and urea in the final step of the urea cycle. The enzyme deficiency disease, argininemia, is a rare autosomal recessive disorder which presents with progressive psychomotor retardation, growth failure, seizures, and spasticity affecting the lower extremities more than the upper.1 It does not, however, commonly have the severe hyperammonemia seen with other urea cycle disorders.1,2 We describe two unrelated patients, previously thought to have cerebral palsy, who were later found to have arginase deficiency. This suggests that the condition may be underdiagnosed because of its relatively mild symptoms. CASE REPORTS Patient 1, a 9-year-old boy, was born at term after an uncomplicated pregnancy to nonconsanguineous African-American parents.

Reimbursement for Medical Foods for Inborn Errors of Metabolism

PEDIATRICS ◽  
1994 ◽  
Vol 93 (5) ◽  
pp. 860-860
Author(s):  
Keyword(s):  
Amino Acid ◽  
Metabolic Diseases ◽  
Urea Cycle ◽  
Private Insurance ◽  
Type I ◽  
Urea Cycle Disorders ◽  
Healthy Children ◽  
Inborn Errors ◽  
Medical Foods ◽  
Cycle Disorders

Inborn errors of amino acid metabolism such as phenylketonuria, maternal phenylketonuria, maple syrup urine disease, homocystinuria, methylmalonic acidemia, propionic acidemia, isovaleric acidemia and other disorders of leucine metabolism, glutaric acidemia type I and tyrosinemia types I and II, and urea cycle disorders are rare diseases that are treatable by diet. Treatment might include the restriction of one or more amino acids, the restriction of total nitrogen, or the supplementation of specific substances. Untreated, these diseases culminate in severe mental retardation or death. Once diagnosis is confirmed, treatment of amino acid and urea cycle disorders must be carefully monitored by a physician with expertise in metabolic diseases. Special medical foods, commercially available, are indispensable for the active, ongoing treatment of diagnosed amino acid and urea cycle disorders. Special medical foods would, if used as the sole dietary source, represent a hazard to affected and healthy children. US Public Law (Publ L) 100-290 defines the term medical food as ". . . a food which is formulated to be consumed or administered enterally under the supervision of a physician and which is intended for the specific dietary management of a disease or condition for which distinctive nutritional requirements, based on recognized scientific principles, are established by medical evaluation."1 After passage of Publ L 100-290, many states provided funding for these products through Medicaid, and most states offered assistance through Crippled Children's and Women, Infant, and Children's programs. Some states now have laws mandating private insurance coverage for special medical foods. It is the position of the American Academy of Pediatrics that special medical foods that are used in the treatment of amino acid and urea cycle disorders are medical expenses that should be reimbursed.

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