Retrospective evaluation of 85 patients with urea cycle disorders: one center experience, three new mutations
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Özlem Saritaş Nakip
,
Yılmaz Yıldız
Abstract
Objectives
Urea cycle disorders (UCDs) are rare hereditary diseases. This study was conducted to help identify the characteristics of UCDs in Turkey.
Methods
The 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.
Results
Classical 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.
Conclusions
This 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.
Research funding: None declared.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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Supplementary material
The online version of this article offers supplementary material (https://doi.org/10.1515/jpem-2019-0413).
© 2020 Walter de Gruyter GmbH, Berlin/Boston
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Articles in the same Issue
- Frontmatter
- Original Articles
- Genetic characteristics and follow-up of patients with fatty acid β-oxidation disorders through expanded newborn screening in a Northern Chinese population
- Clinical and genetic investigation of 136 Japanese patients with congenital hypothyroidism
- Institutional experience of newborn screening for inborn metabolism disorders by tandem MS in the Turkish population
- Investigation of the effect of epicardial adipose tissue thickness on cardiac conduction system in children with type 1 diabetes mellitus
- Retrospective evaluation of 85 patients with urea cycle disorders: one center experience, three new mutations
- Circulating chemerin level may be associated with early vascular pathology in obese children without overt arterial hypertension – preliminary results
- A novel diagnostic tool for the evaluation of hypothalamic-pituitary region and diagnosis of growth hormone deficiency: pons ratio
- Growth status of children and adolescents born small for gestational age at full term in Korea: data from the KNHANES-V
- Children with onset-ketoacidosis are admitted to the nearest hospital available, regardless of center size
- Evaluation of α-klotho level in insulin dependent diabetes mellitus (IDDM) children
- Evaluation of the relationship between the one-hour plasma glucose concentration and beta-cell functions and cardiometabolic parameters during oral glucose tolerance test in obese children and adolescents
- Triglycerides/high-density lipoprotein cholesterol is a predictor similar to the triglyceride–glucose index for the diagnosis of metabolic syndrome using International Diabetes Federation criteria of insulin resistance in obese adolescents: a cross-sectional study
- Rapid progressive central precocious puberty: diagnostic and predictive value of basal sex hormone levels and pelvic ultrasound
- Mucopolysaccharidosis III in Mainland China: natural history, clinical and molecular characteristics of 34 patients
- Case Reports
- An infant presenting with extreme hypertriglyceridemia diagnosed as glycogen storage disease type Ia
- A novel heterozygous mutation in the insulin receptor gene presenting with type A severe insulin resistance syndrome
- Isolated premature menarche in two siblings with Neurofibromatosis type 1
- GAD-65 autoantibody associated epilepsy
