Document Type : Original Article
Authors
- Homa Ilkhanipoor 1
- Naser Honar 2
- Elham Razavi 3
- Hossein Moravej 4
- Ali Nazemosadat 5
- Hamide Barzegar 2
1 Department of Pediatric Endocrinology and Metabolism, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran
2 Neonatology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran
3 Pediatric Department, Shiraz University of Medical Sciences, Shiraz, Iran.
4 Neonatal Research Center, Shiraz University of Medical Sciences, Shiraz, Iran
5 Student Research Committee, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.
Abstract
Background: Inborn errors of metabolism (IEMs) are rare genetic disorders that usually cause disease by blocking a metabolic pathway. Delayed diagnosis often occurs due to nonspecific symptoms. This study assesses the demographic and clinical characteristics of pediatric patients with IEMs admitted to Namazi hospital, a referral center in southern Iran.
Methods: All 1-month-old to 18-year-old patients who were admitted to the pediatric ward at Namazi hospital, a referral center in southern Iran, and diagnosed with IEMs were enrolled. Patients with incomplete information were excluded. Comprehensive demographic and clinical data, including age, sex, parental consanguinity, family history of IEM, presenting symptoms, number of hospitalizations, age of onset, and diagnosis of the disease, were collected. All the data were entered into SPSS version 22 and analyzed.
Results: Two hundred patients, 53.5% male and 46.5% female, were enrolled in the study. The predominant clinical symptoms observed were lethargy and vomiting. The most prevalent IEMs were aminoacidopathies, organic acidemia, and mitochondrial disease. Consanguinity was found in 57.5% of patients, while a family history of metabolic diseases was observed in 16.5%. A statistically significant association was identified between consanguinity and the type of disease.
Conclusion: The clinical symptoms of IEMs are nonspecific and may be misdiagnosed as other diseases, such as septicemia. We should always keep IEMs in mind to detect the disease earlier and prevent significant morbidities and mortality through appropriate and timely treatment. Due to the prevalence of family marriages in Iran, we should also consider metabolic screening.
Highlights
Homa Ilkhanipoor(google scholar)(pubmed)
Naser Honar(google scholar)(pubmed)
Elham Razavi(google scholar)(pubmed)
Hossein Moravej(google scholar)(pubmed)
Ali Nazemosadat(google scholar)(pubmed)
Hamide Barzegar(google scholar)(pubmed)
Keywords
Main Subjects
- Ferreira CR, van Karnebeek CDM. Inborn errors of metabolism. Handb Clin Neurol. 2019;162:449-81. doi: 1016/b978-0- 444-64029-1.00022-9.
- Tebani A, Abily-Donval L, Afonso C, Marret S, Bekri S. Clinical metabolomics: the new metabolic window for inborn errors of metabolism investigations in the post-genomic era. Int J Mol Sci. 2016;17(7):1167. doi: 3390/ijms17071167.
- El-Hattab AW. Inborn errors of metabolism. Clin Perinatol. 2015;42(2):413-39. doi: 1016/j.clp.2015.02.010.
- Pandor A, Eastham J, Beverley C, Chilcott J, Paisley S. Clinical effectiveness and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry: a systematic review. In: NIHR Health Technology Assessment programme: Executive Summaries. Southampton, UK: NIHR Journals Library; 2004.
- Oniya O, Neves K, Ahmed B, Konje JC. A review of the reproductive consequences of consanguinity. Eur J Obstet Gynecol Reprod Biol. 2019;232:87-96. doi: 1016/j. ejogrb.2018.10.042.
- Keyfi F, Nasseri M, Nayerabadi S, Alaei A, Mokhtariye A, Varasteh A. Frequency of inborn errors of metabolism in a Northeastern Iranian sample with high consanguinity rates. Hum Hered. 2018;83(2):71-8. doi: 1159/000488876.
- Guo K, Zhou X, Chen X, Wu Y, Liu C, Kong Q. Expanded newborn screening for inborn errors of metabolism and genetic characteristics in a Chinese population. Front Genet. 2018;9:122. doi: 3389/fgene.2018.00122.
- Saudubray JM, García-Cazorla Á. Clinical approach to inborn errors of metabolism in paediatrics. In: Saudubray JM, Baumgartner MR, García-Cazorla Á, Walter J, eds. Inborn Metabolic Diseases: Diagnosis and Treatment. Berlin, Heidelberg: Springer; 2022. p. 3-123. doi: 1007/978-3- 662-63123-2_1.
- Žigman T, Petković Ramadža D, Šimić G, Barić Inborn errors of metabolism associated with autism spectrum disorders: approaches to intervention. Front Neurosci. 2021;15:673600. doi: 10.3389/fnins.2021.673600.
- Moravej H, Inaloo S, Nahid S, Mazloumi S, Nemati H, Moosavian T, et al. Inborn errors of metabolism associated with autism among children: a multicenter study from Iran. Indian Pediatr. 2023;60(3):193-6. doi: 1007/s13312-023- 2833-1.
- Abbasi F, Setoodeh A, Sayarifard F, Rostami P, Rabbani A. Inborn errors of metabolism-clinical findings and laboratory tests at the children’s medical center, Tehran, Iran. Iran J Pediatr. 2016;26(6):e3844. doi: 5812/ijp.3844.
- Hadj-Taieb S, Nasrallah F, Hammami MB, Elasmi M, Sanhaji H, Moncef F, et al. Aminoacidopathies and organic acidurias in Tunisia: a retrospective survey over 23 years. Tunis Med. 2012;90(3):258-61.
- Martín-Rivada Á, Palomino Pérez L, Ruiz-Sala P, Navarrete R, Cambra Conejero A, Quijada Fraile P, et al. Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region. JIMD Rep. 2022;63(2):146- 61. doi: 1002/jmd2.12265.
- Saadat M, Ansari-Lari M, Farhud DD. Consanguineous marriage in Iran. Ann Hum Biol. 2004;31(2):263-9. doi: 1080/03014460310001652211.
- Al-Thihli K, Al-Murshedi F, Al-Hashmi N, Al-Mamari W, Islam MM, Al-Yahyaee SA. Consanguinity, endogamy and inborn errors of metabolism in Oman: a cross-sectional study. Hum Hered. 2014;77(1-4):183-8. doi: 1159/000362686.
- Al-Arrayed S, Hamamy H. The changing profile of consanguinity rates in Bahrain, 1990-2009. J Biosoc Sci. 2012;44(3):313-9. doi: 1017/s0021932011000666.
- Golbahar J, Al-Jishi EA, Altayab DD, Carreon E, Bakhiet M, Alkhayyat H. Selective newborn screening of inborn errors of amino acids, organic acids and fatty acids metabolism in the Kingdom of Bahrain. Mol Genet Metab. 2013;110(1-2):98- 101. doi: 1016/j.ymgme.2013.07.006.
- AlObaidy H. Patterns of inborn errors of metabolism: a 12 year single-center hospital-based study in Libya. Qatar Med J. 2013;2013(2):57-65. doi: 5339/qmj.2013.18.
- Moammar H, Cheriyan G, Mathew R, Al-Sannaa N. Incidence and patterns of inborn errors of metabolism in the Eastern province of Saudi Arabia, 1983-2008. Ann Saudi Med. 2010;30(4):271-7. doi: 4103/0256-4947.65254.
- Ibarra-González I, Fernández-Lainez C, Guillén-López S, López-Mejía L, Belmont-Martínez L, Nieto-Carrillo RI, et al. Importance of studying older siblings of patients identified by newborn screening: a single-center experience in Mexico. J Inborn Errors Metab Screen. 2021;9:e20210001. doi: 1590/2326-4594-jiems-2021-0001.
- Khneisser I, Adib S, Assaad S, Megarbane A, Karam P. Cost-benefit analysis: newborn screening for inborn errors of metabolism in Lebanon. J Med Screen. 2015;22(4):182-6. doi: 1177/0969141315590675.
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