Clinical findings in five Turkish patients with citrin deficiency and identification of a novel mutation on SLC25A13
-
Melis Demir Köse
,
Mehtap Kagnici
Abstract
Background
Citrin deficiency (CD) is an autosomal recessive genetic disorder caused by a defect in the mitochondrial aspartate/glutamate antiporter, citrin. Three clinical manifestations have been described until today.
Case presentation
We reported 5 CD patients from two families. Four patients were male and one patient was female. Two of them have NICCD (neonatal intrahepatic cholestasis caused by citrin deficiency); three of them have CTLN2 (adult-onset type II citrullinemia). Both NICCD patients showed typical clinical and biochemical changes with a diagnosis confirmed by mutations in the SLC25A13 gene. We detected a previously unreported homozygous novel mutation c.478delC (L160Wfs*36 ) on the SLC25A13 gene. All of the CTLN2 patients were siblings. Proband was a 15-year-old mentally retarded and autistic male who had admitted to our emergency with disorientation. Laboratory data showed hyperammonemia and citrullinemia.
Conclusions
Two different profiles of age-related CD have been depicted with this article. It has been aimed to underline that the CD can be observed in different forms not only in neonatals or little infants but also in adolescents. This article is the first case series that covers both NICCD and CTLN2 cases together and that has been published in Turkey. Considering the fact that especially the majority of CTLN2 cases have been identified in Asian countries, our article has vital importance in terms of defining phenotypic features of the disease.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
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.
Ethical statement
Informed consent: Informed consent was obtained from the parents of all patients included in this paper.
Ethical approval: The research related to human use complied with all the relevant national regulations, institutional policies and is in accordance with the tenets of the Helsinki Declaration, and has been approved by the authors’ Institutional Review Board or equivalent committee.
References
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©2020 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
- Frontmatter
- Editorial
- Inborn errors of metabolism
- Reviews
- Nutrition and medical support during pregnancy and lactation in women with inborn errors of intermediary metabolism disorders (IEMDs)
- The association between prenatal exposure to organochlorine compounds and neonatal thyroid hormone levels: a systematic review
- Original Articles
- Investigating the incidence rate and geographical distribution of congenital hypothyroidism among neonates in Isfahan province using geographic information system (GIS) between 2002 and 2015
- Analysis of five cases of hypermethioninemia diagnosed by neonatal screening
- What is the evidence for beneficial effects of growth hormone treatment beyond height in short children born small for gestational age? A review of published literature
- Machine learning-based prediction of response to growth hormone treatment in Turner syndrome: the LG Growth Study
- Pathogenic/likely pathogenic variants in the SHOX, GHR and IGFALS genes among Indian children with idiopathic short stature
- Celiac disease in Saudi children with isolated short stature: is it rare or are we not screening rigorously enough?
- The beneficial effect of psychological support on mothers with PKU children who suffer from social discrimination and damage of quality of life
- Long-term effects of GnRH agonist treatment on body mass index in girls with idiopathic central precocious puberty
- Sudden sex hormone withdrawal and the effects on body composition in late pubertal adolescents with gender dysphoria
- The alteration of IGF-1 levels and relationship between IGF-1 levels and growth velocity during GnRH analogue therapy
- BMI relationship to the onset of puberty: assessment of growth parameters and sexual maturity changes in Egyptian children and adolescents of both sexes
- The effects of a 12-week jump rope exercise program on body composition, insulin sensitivity, and academic self-efficacy in obese adolescent girls
- Onset of pituitary hormone deficiencies in optic nerve hypoplasia: a temporal trend analysis of 32 children at Mayo Clinic
- Dietary practices in methylmalonic acidaemia: a European survey
- Case Reports
- Clinical findings in five Turkish patients with citrin deficiency and identification of a novel mutation on SLC25A13
- A rare case of primary coenzyme Q10 deficiency due to COQ9 mutation
- Sinusitis, an under-reported adverse effect in children treated with radioactive iodine therapy and review of the current literature
- Acknowledgment
Artikel in diesem Heft
- Frontmatter
- Editorial
- Inborn errors of metabolism
- Reviews
- Nutrition and medical support during pregnancy and lactation in women with inborn errors of intermediary metabolism disorders (IEMDs)
- The association between prenatal exposure to organochlorine compounds and neonatal thyroid hormone levels: a systematic review
- Original Articles
- Investigating the incidence rate and geographical distribution of congenital hypothyroidism among neonates in Isfahan province using geographic information system (GIS) between 2002 and 2015
- Analysis of five cases of hypermethioninemia diagnosed by neonatal screening
- What is the evidence for beneficial effects of growth hormone treatment beyond height in short children born small for gestational age? A review of published literature
- Machine learning-based prediction of response to growth hormone treatment in Turner syndrome: the LG Growth Study
- Pathogenic/likely pathogenic variants in the SHOX, GHR and IGFALS genes among Indian children with idiopathic short stature
- Celiac disease in Saudi children with isolated short stature: is it rare or are we not screening rigorously enough?
- The beneficial effect of psychological support on mothers with PKU children who suffer from social discrimination and damage of quality of life
- Long-term effects of GnRH agonist treatment on body mass index in girls with idiopathic central precocious puberty
- Sudden sex hormone withdrawal and the effects on body composition in late pubertal adolescents with gender dysphoria
- The alteration of IGF-1 levels and relationship between IGF-1 levels and growth velocity during GnRH analogue therapy
- BMI relationship to the onset of puberty: assessment of growth parameters and sexual maturity changes in Egyptian children and adolescents of both sexes
- The effects of a 12-week jump rope exercise program on body composition, insulin sensitivity, and academic self-efficacy in obese adolescent girls
- Onset of pituitary hormone deficiencies in optic nerve hypoplasia: a temporal trend analysis of 32 children at Mayo Clinic
- Dietary practices in methylmalonic acidaemia: a European survey
- Case Reports
- Clinical findings in five Turkish patients with citrin deficiency and identification of a novel mutation on SLC25A13
- A rare case of primary coenzyme Q10 deficiency due to COQ9 mutation
- Sinusitis, an under-reported adverse effect in children treated with radioactive iodine therapy and review of the current literature
- Acknowledgment
