scholarly journals Citrullinemia Type I - A Case Report

2016 ◽  
Vol 33 (2) ◽  
pp. 98-100
Author(s):  
Fauzia Mohsin ◽  
Sharmin Mahbuba ◽  
Tahmina Begum ◽  
Narayan Chandra Saha ◽  
Kishwar Azad ◽  
...  
Keyword(s):  
Urea Cycle ◽  
Female Child ◽  
Amino Acid Profile ◽  
Dramatic Improvement ◽  
Type I ◽  
Frequent Vomiting ◽  
Cycle Disorders ◽  
One Year ◽  
High Level ◽  
Citrullinemia Type I

Citrullinemia type I (CTLN1) is an inherited urea cycle disorder where the enzyme argininosuccinate synthetase is deficient. It can lead to recurrent hyperammonemic crisis that may result in permanent neurological sequelae, even death. Vomiting in patients with urea cycle disorders may either be the result or cause of acute hyperammonemia, particularly if due to an illness that leads to catabolism. Therefore, age-appropriate common etiologies of vomiting must be considered when evaluating these patients. We present a case of a 2 year 5 month old female child with CTLN1 who had a history of frequent vomiting after the age of one year and some recent neurological manifestations like excessive crying and lethargy and one episode of unconsciousness. Investigations revealed high level of ammonia. Amino acid profile using tandem mass spectrometry showed markedly increased plasma level of citrulline. After administration of sodium benzoate and protein restricted diet there was dramatic improvement of all the symptoms.J Bangladesh Coll Phys Surg 2015; 33(2): 98-100

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.

scholarly journals Novel in vitro model of urea cycle disorder using citrullinemia type I patient-derived iPSC s

HPB ◽  
2016 ◽  
Vol 18 ◽  
pp. e300
Author(s):  
E.Y. Yoshitoshi ◽  
T. Toyoda ◽  
K. Yasuda ◽  
M. Kotaka ◽  
K. Okita ◽  
...  
Keyword(s):  
In Vitro Model ◽  
Urea Cycle ◽  
Urea Cycle Disorder ◽  
Type I ◽  
Vitro Model ◽  
Citrullinemia Type I

scholarly journals High Blood Pressure in a Urea Cycle Disorder: Case Report

2020 ◽  
Vol 10 (04) ◽  
pp. e347-e351
Author(s):  
Carolina Solé ◽  
María Arriaga ◽  
Elvira Cañedo
Keyword(s):  
Blood Pressure ◽  
Case Report ◽  
High Blood Pressure ◽  
Urea Cycle ◽  
Early Recognition ◽  
Urea Cycle Disorder ◽  
Type I ◽  
Irreversible Damage ◽  
Pathological Conditions ◽  
Cycle Disorders

Abstract Introduction Urea cycle disorders (UCDs) form a group of metabolic pathological conditions that might develop serious neurological consequences. Early diagnosis, before irreversible damage is established, is the most important prognostic and morbidity factor. Case Report We present the case of a 5-day newborn with high blood pressure and respiratory distress. Diagnosis was type I citrullinemia. With appropriate citrullinemia guided-treatment blood pressure returned to normal. Conclusion High blood pressure has been rarely described as a lead symptom for the debut of a UCD. We must take this into consideration as an early recognition and treatment of these disorders are of the utmost importance.

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

Sustained normoglycemia in newly diagnosed type I diabetic subjects. Short-term effects and one-year follow-up

Diabetes ◽  
1984 ◽  
Vol 33 (10) ◽  
pp. 995-1001 ◽  
Author(s):  
K. Perlman ◽  
R. M. Ehrlich ◽  
R. M. Filler ◽  
A. M. Albisser
Keyword(s):  
Type I ◽  
Newly Diagnosed ◽  
Short Term ◽  
One Year ◽  
Short Term Effects

Health-related quality of life one year after surgical treatment of the type I chronic aortic dissection

2019 ◽  
Vol 38 (1) ◽  
Author(s):  
Oksana Kamenskaya ◽  
Asya Klinkova ◽  
Irina Loginova ◽  
Alexander Chernyavskiy ◽  
Dmitry Sirota ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Surgical Treatment ◽  
Aortic Dissection ◽  
Type I ◽  
Health Related Quality ◽  
Chronic Aortic Dissection ◽  
Related Quality ◽  
Health Related ◽  
One Year

scholarly journals Evaluation of Physiological and Quality Parameters of Green Asparagus Spears Subjected to Three Treatments against the Decline Syndrome

Agronomy ◽  
2021 ◽  
Vol 11 (5) ◽  
pp. 937
Author(s):  
Francisco Javier López-Moreno ◽  
Santiago Atero-Calvo ◽  
Eloy Navarro-León ◽  
Begoña Blasco ◽  
Teresa Soriano ◽  
...  
Keyword(s):  
Early Death ◽  
Amino Acid Profile ◽  
Quality Parameters ◽  
Asparagus Officinalis ◽  
Chicken Manure ◽  
Economic Losses ◽  
Whole Plants ◽  
High Level ◽  
Green Asparagus

Green asparagus (Asparagus officinalis L.) is a widely grown and consumed crop which provides high-level nutritional interest. In recent years, the decline syndrome in asparagus plantations has been rapidly augmenting. This syndrome causes the early death of whole plants, also negatively affecting the new replanting. Decline causes notable economic losses in the sector. The objective of this work was to verify the effect of different treatments against asparagus decline syndrome on the physiological parameters and nutritional quality of the spears. To meet the objective, four different treatments were applied to asparagus plots strongly affected by decline syndrome: (T1) untreated control soil, (T2) biofumigation with Brassica pellets, (T3) biofumigation with chicken manure pellets, and (T4) disinfestation of the soil with Dazomet. The cumulative yield and physiological and quality parameters of green asparagus spears were studied. Thus, malondialdehyde (MDA), photosynthetic pigments, glutathione (GSH), ascorbate (AsA), total phenols, flavonoids, anthocyanin, antioxidant test, mineral nutrients, and the amino acid profile were measured on asparagus spears. The results showed that the Brassica pellets and Dazomet treatments were the most effective against the damage caused by the decline syndrome. However, it would be necessary to monitor the evolution in the following years.

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
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