Nutrition Management of Urea 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.

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Biomarkers for liver disease in urea cycle disorders

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2021.04.001 ◽

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

Journal of Inherited Metabolic Disease ◽

10.1002/jimd.12146 ◽

2019 ◽

Vol 42 (6) ◽

pp. 1176-1191 ◽

Cited By ~ 1

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

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Urea Cycle Disorders: Clinical Presentation Outside the Newborn Period

Critical Care Clinics ◽

10.1016/j.ccc.2005.05.007 ◽

2005 ◽

Vol 21 (4) ◽

pp. S9-S17 ◽

Cited By ~ 54

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

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

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2011.04.013 ◽

2011 ◽

Vol 103 (4) ◽

pp. 323-329 ◽

Cited By ~ 39

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

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

Journal of Cellular and Molecular Medicine ◽

10.1111/jcmm.16379 ◽

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

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Reimbursement for Medical Foods for Inborn Errors of Metabolism

PEDIATRICS ◽

10.1542/peds.93.5.860 ◽

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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