Demographic and Clinical Findings in Pediatric Patients Affected by Organic Acidemia

Reza NAJAFI, Mahin HASHEMIPOUR, Neda MOSTOFIZADEH, Mohammadreza GHAZAVI, Jafar NASIRI, Armindokht SHAHSANAI, Fatemeh FAMORI, Fatemeh NAJAFI, Mohammad MOAFI

Abstract


795

How to Cite This Article: Najafi R, Hashemipour M, Mostofizadeh N, Ghazavi MR, Nasiri J, Shahsanai A, Famori F, Najafi F, Moafi M. Demographic and Clinical Findings in Pediatric Patients Affected by Organic Acidemia. Iran J Child Neurol. Spring 2016; 10(2): 74-81.

Abstract

Objective

Metabolic disorders, which involve many different organs, can be ascribed to enzyme deficiency or dysfunction and manifest with a wide range of clinical symptoms. This study evaluated some of the demographic and clinical findings in pediatric patients affected by organic acidemia.

Materials & Methods

This cross-sectional study was part of a larger study conducted in patients with metabolic disorders during a period of 7 years from 2007 to 2014 in Isfahan Province, Iran. Our study covered a wide range of cases from newborn infants (one-week old) to adolescents (children up to the age of 17 years). This study evaluated patients’ demographic information, history of disease, developmental and educational status, clinical and general conditions. Phone and in-person interviews were used to gather information.

Results

Out of 5100 patients screened in this study, 392 patients were affected by one of the different metabolic disorders and 167 individuals were diagnosed as organic acidemia. Propionic acidemia/methyl malonic acidemia (PA/MMA) was the most prevalent form of this metabolic disorder. The frequency of consanguinity was 84.7% in the group of patients. The mortality rate was 18.8% in patients with organic academia.

Conclusion

Each of the metabolic diseases, as a separate entity, is rare; nevertheless, in aggregate they have a somewhat high overall prevalence. These diseases result in mental and developmental disorders in the absence of quick diagnosis and initiation of treatment. Furthermore, more mutations should be identified in societies affected by consanguinity. Further research should also be conducted to determine worthwhile and more-efficient screening methods as well as longterm neurological prognosis.

 

References:

  1. Champion MP.An approach to the diagnosis of inherited metabolic disease. Arch Dis Child EducPract Ed 2010; 95:40.
  2. D.L. Marsden,Inborn Errors of Metabolism: Classification and Biochemical AspectsEncyclopedia of Human Nutrition (Third Edition), 2013, Pages 1-10
  3. Huang X, Yang L Dr, Tong F Dr, Yang R Dr, Zhao Z Prof. Screening for inborn errors of metabolism in high-risk children: a 3-year pilot study in Zhejiang Province, China. BMC Pediatr. Feb 24 2012;12(1):18
  4. Waisbren SE. Expanded newborn screening: information and resources for the family physician. Am Fam Physician. Apr 1 2008;77(7):987-94.
  5. Kliegman RM, Behrman RE, Genson HB, Stanton BF .,An Approach to Inborn Errors of Metabolism, : Nelson textbook of pediatric19th ed, Philadelphia:Saunders;2011, Chapter 78 ;309-16.
  6. Ayelet Erez, Oleg A. Shchelochkov, Sharon E. Plon, Fernando Scaglia, and Brendan Lee The American Journal of Human Genetics April 8, 2011,88; 402–421
  7. Disorders of energy metabolism1-Nyhan WL, Ozand PT. Atlas of Metabolic Diseases, 1st ed, Chapman and Hall Medical, London 1998.
  8. Fowler B. Genetic defects of folate and cobalamin metabolism. Eur J Pediatr 1998; 157 Suppl 2:S60.
  9. Hoffmann GF, Zschocke J. Glutaric aciduria type I: from clinical, biochemical and molecular diversity to successful therapy. J Inherit Metab Dis 1999; 22:381.
  10. Hoffmann GF, Gibson KM, Trefz FK, et al. Neurological manifestations of organic acid disorders. Eur J Pediatr 1994; 153:S94.
  11. Wappner RS. Biochemical diagnosis of genetic diseases. Pediatr Ann 1993; 22:282.
  12. Weiner DL. Metabolic emergencies. In: Textbook of pediatric emergency medicine, 5th ed, Fleisher GR, Ludwig S, Henretig FM (Eds), Lippincott, Williams and Wilkins, Philadelphia 2006. p.1193.
  13. Lindor NM, Karnes PS. Initial assessment of infants and children with suspected inborn errors of metabolism. Mayo Clin Proc 1995; 70:987.
  14. Kamboj M. Clinical approach to the diagnoses of inborn errors of metabolism. Pediatr Clin North Am 2008; 55:1113.
  15. J. Golbahar, E.A. Al-Jishi, D.D. Altayab, E. Carreon, M. Bakhiet, H. Alkhayyat .Selective newborn screening of inborn error of amino acids, organic acids and fatty acids metabolism in the Kingdom of Bahrain ;Molecular Genetics and Metabolism, Volume 110, Issues 1–2, September–October 2013, Pages 98-101.
  16. Carlo Dionisi-Vici , Cristiano Rizzo, Alberto B. Burlina, , Ubaldo Caruso, Gaetano Sabetta , Graziella Uziel, Damiano Abeni, ,Inborn errors of metabolism in the Italian pediatric population: A national retrospective survey , the Italian Metabolic Network Contributing Investigators:J Pediatr 2002;140:321-7.
  17. Moacir Wajner a,b , Daniella de Moura Coelho a, Rafaela Ingrassia a, Anderson Büker de Oliveira a, Estela Natacha Brandt Busanello a, Kimiyo Raymond c, etal :Selective screening for organic acidemias by urine organic acid GC–MS analysis in Brazil: Fifteen-year experience:Clinica Chimica Acta 400 (2009) 77–81.
  18. It-Koon Tan, FRCPath, Bani Gajra, Maria SF Lim, Study of Inherited Metabolic Disorders in Singapore – 13 Years Experience :Ann Acad Med Singapore 2006;35:804-13.
  19. 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; 30:271-7.
  20. Nagaraja D, Mamatha SN, De T, Christopher R. Screening for inborn errors of metabolism using automated electrospray tandem mass spectrometry: study in high-risk Indian population. Clinical biochemistry. 2010; 43(6):581-8.
  21. Hendriekje Eggink, Anouk Kuiper, Kathryn J Peall, Maria Fiorella Contarino, Annet M Bosch, Bart Post, Deborah A Siva, Marina AJ Tijssen and Tom J de Koning :Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning Eggink et al. Orphanet Journal of Rare Diseases 2014, 9:177.
  22. Han LS, Qiu J, Ye WJ, Gao XL, Wang Y, Gu XF: Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report. J Inherit Metab Dis 2007, 30:507-514.
  23. Xinwen Huang, Lili Yang, Fan Tong, Rulai Yang and Zhengyan Zhao: Screening for inborn errors of metabolism in high-risk children: a 3-year pilot study in Zhejiang Province, China:Huang et al. BMC Pediatrics 2012, 12:18.
  24. Tarun Choudhuri and Sivajee Sengupta .Inborn Error of Metabolism –An Indian Perspective،Int J Hum Genet, 6(1): 89-91 (2006).
  25. Elsobky E, Elsayed SM. Extended metabolic screen in sick neonates and children. Egypt J Med Hum Genet. 2004; 5: 1-7.
  26. Satwani H, Raza J, Hanai J, Nomachi S. Prevalence of selected disorders of inborn errors of metabolism in suspected cases at a Tertiary Care Hospital in Karachi. JPMA. 2009; 59:815-9.
  27. Narges Pishva, Alie Mirzaee, Zohre Karamizade, Shahnaz Pourarian, Fariba Hemmati, Mostajab Razvi, Forough Saki.Selective Screening of High-risk Iranian Patients for the Detection of Inborn Error of Metabolism 14 Iranian Journal of Neonatology 2014; 5(4).
  28. A. García-Cazorla, N.I. Wolf, M. Serrano, U. Moog, B. Pérez-Dueñas, P. Póo, M. Pineda, J. Campistol, G.F. Hoffmann, Mental retardation and inborn errors of metabolism, J. Inherit. Metab. Dis. 32 (2009) 597–608.
  29. Sitke A, Ulrich D, Peter H, Johannes K, Manfred S, Hartmut S. NMR-Based Screening for Inborn Errors of Metabolism: Initial Results from a Study on Turkish Neonate. JIMD Reports DOI 10.1007/8904_2014_326.
  30. Waleed H A, Magdy HB, Mohammed SM, Ibrahim H. Risk factors and birth prevalence of birth defects and inborn errors of metabolism in Al Ahsa, Saudi Arabia. Pan Afr Med J 2011; 8:14.
  31. Karimzadeh P, Jafari N, Jabbehdari S, Taghdiri MM, Nemati H, Saket S, Alaee MR, Ghofrani M, Tonakebni SH. Methylmalonic Acidemia: Diagnosis and Neuroimaging Findings of This Neurometabolic Disorder (An Iranian Pediatric Case Series). Iran J Child Neurol 2013 7(3): 63- 66.
  32.  Ibarra GI, Fernández LC, Reyes GD, Belmont M L, Guillén LS, Monroy SS et al. Inborn Errors of Intermediary Metabolism in Critically Ill Mexican Newborns. J Inborn Errors Metabol Screening 2014:1–7.
  33. Hanna AO. Patterns of inborn errors of metabolism: A 12-year single-center hospital-based study in Libya. Qatar Med J 2013 (2):57-65.
  34. Tu W, He J, Dai F, Wang X, Li Y. Impact of inborn errors of metabolism on admission in a neonatal intensive care unit--a prospective cohort study. Indian J Pediatr 2012 Apr;79(4):494-500.

Keywords


Organic acidemia; Consanguinity; Developmental delay; Early detection

Full Text:

PDF

282



DOI: https://doi.org/10.22037/ijcn.v10i2.10410

Refbacks

  • There are currently no refbacks.


Copyright (c) Iranian Journal of Child Neurology