Startseite Inborn errors of immunity and metabolic disorders: current understanding, diagnosis, and treatment approaches
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Inborn errors of immunity and metabolic disorders: current understanding, diagnosis, and treatment approaches

  • Pelin Teke Kisa ORCID logo EMAIL logo und Nur Arslan ORCID logo
Veröffentlicht/Copyright: 16. Dezember 2020
Journal of Pediatric Endocrinology and Metabolism
Aus der Zeitschrift Journal of Pediatric Endocrinology and Metabolism Band 34 Heft 3

Abstract

Inborn errors of metabolism consist of a heterogeneous group of disorders with various organ systems manifestations, and some metabolic diseases also cause immunological disorders or dysregulation. In this review, metabolic diseases that affect the immunological system and particularly lead to primary immune deficiency will be reviewed. In a patient with frequent infections and immunodeficiency, the presence of symptoms such as growth retardation, abnormal facial appearance, heart, skeletal, lung deformities, skin findings, arthritis, motor developmental retardation, seizure, deafness, hepatomegaly, splenomegaly, impairment of liver function tests, the presence of anemia, thrombocytopenia and eosinophilia in hematological examinations should suggest metabolic diseases for the underlying cause. In some patients, these phenotypic findings may appear before the immunodeficiency picture. Metabolic diseases leading to immunological disorders are likely to be rare but probably underdiagnosed. Therefore, the presence of recurrent infections or autoimmune findings in a patient with a suspected metabolic disease should suggest that immune deficiency may also accompany the picture, and diagnostic examinations in this regard should be deepened.

Keywords: autoimmunity; immunodeficiency; inborn errors of metabolism; infection
Nur Arslan, MD, PhD, Division of Pediatric Metabolism and Nutrition, Dokuz Eylul University Faculty of Medicine, Izmir, Turkey; and Department of Inborn Errors of Metabolism, Dokuz Eylul University Faculty of Medicine, Biomedicine and Genome Center (IBG-Izmir), Balcova, 35330, Izmir, Turkey, Phone: +90 90 2324126107, Fax: +90 90 2324126005, E-mail:

  1. Research funding: None declared.

  2. Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.

  3. Competing interests: Authors state no conflict of interest.

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Received: 2020-05-15
Accepted: 2020-11-19
Published Online: 2020-12-16
Published in Print: 2021-03-26

© 2020 Walter de Gruyter GmbH, Berlin/Boston

Artikel in diesem Heft

  1. Frontmatter
  2. Review Article
  3. Inborn errors of immunity and metabolic disorders: current understanding, diagnosis, and treatment approaches
  4. Original Articles
  5. Evaluation of hydration status of children with obesity—a pilot study
  6. Relationship between insulin-like growth factor-1, insulin resistance and metabolic profile with pre-obesity and obesity in children
  7. Evaluation of Hemoglobin A1c before and after initiation of continuous glucose monitoring in children with type 1 diabetes mellitus
  8. Karyotype is associated with timing of ovarian failure in women with Turner syndrome
  9. The role of makorin ring finger protein-3, kisspeptin, and neurokinin B in the physiology of minipuberty
  10. Brain MRIs may be of low value in most children diagnosed with isolated growth hormone deficiency
  11. Significant improvement in bone mineral density in pediatric celiac disease: even at six months with gluten-free diet
  12. Population-based waist circumference reference values in Japanese children (0–6 years): comparisons with Dutch, Swedish and Turkish preschool children
  13. Extended growth charts for Indian children
  14. Rib fractures in infancy, case-series and register case-control study from Sweden
  15. Gonadotropin releasing hormone analogue therapy in girls with idiopathic precocious puberty/early-fast puberty: dynamics in adiposity indices, eating habits and quality of life
  16. Case Reports
  17. Transient benign hyperphosphatasemia due to COVID-19: the first case report
  18. ATP synthase deficiency due to m.8528T>C mutation – a novel cause of severe neonatal hyperammonemia requiring hemodialysis
  19. IgG4-related hypophysitis in adolescence
  20. Graves’ disease in a five-month-old boy with an unusual treatment course
  21. Oral sodium phenylbutyrate for hyperammonemia associated with congenital portosystemic shunt: a case report
  22. Severe multisystem organ dysfunction in an adolescent with simultaneous presentation of Addison’s and Graves’ disease
https://doi.org/10.1515/jpem-2020-0277
Schlagwörter für diesen Artikel
autoimmunity; immunodeficiency; inborn errors of metabolism; infection

Artikel in diesem Heft

  1. Frontmatter
  2. Review Article
  3. Inborn errors of immunity and metabolic disorders: current understanding, diagnosis, and treatment approaches
  4. Original Articles
  5. Evaluation of hydration status of children with obesity—a pilot study
  6. Relationship between insulin-like growth factor-1, insulin resistance and metabolic profile with pre-obesity and obesity in children
  7. Evaluation of Hemoglobin A1c before and after initiation of continuous glucose monitoring in children with type 1 diabetes mellitus
  8. Karyotype is associated with timing of ovarian failure in women with Turner syndrome
  9. The role of makorin ring finger protein-3, kisspeptin, and neurokinin B in the physiology of minipuberty
  10. Brain MRIs may be of low value in most children diagnosed with isolated growth hormone deficiency
  11. Significant improvement in bone mineral density in pediatric celiac disease: even at six months with gluten-free diet
  12. Population-based waist circumference reference values in Japanese children (0–6 years): comparisons with Dutch, Swedish and Turkish preschool children
  13. Extended growth charts for Indian children
  14. Rib fractures in infancy, case-series and register case-control study from Sweden
  15. Gonadotropin releasing hormone analogue therapy in girls with idiopathic precocious puberty/early-fast puberty: dynamics in adiposity indices, eating habits and quality of life
  16. Case Reports
  17. Transient benign hyperphosphatasemia due to COVID-19: the first case report
  18. ATP synthase deficiency due to m.8528T>C mutation – a novel cause of severe neonatal hyperammonemia requiring hemodialysis
  19. IgG4-related hypophysitis in adolescence
  20. Graves’ disease in a five-month-old boy with an unusual treatment course
  21. Oral sodium phenylbutyrate for hyperammonemia associated with congenital portosystemic shunt: a case report
  22. Severe multisystem organ dysfunction in an adolescent with simultaneous presentation of Addison’s and Graves’ disease
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