Difficulties in Daily Life and Associated Factors, and QoL of Children with Inherited Metabolic Disease and Their Parents in Japan: A Literature Review

  • Keiko YamaguchiEmail author
  • Rie Wakimizu
  • Mitsuru Kubota
Research Report
Part of the JIMD Reports book series (JIMD, volume 33)


To assess the quality of life (QoL) of children in Japan with inborn errors of metabolism (IEM) as well as of their parents, we reviewed 23 previous studies published in Japanese and 1 published in English, focusing on the difficulties they encounter in daily life, the factors associated with these difficulties, and their QoL. We divided the difficulties and associated factors into three developmental stages. At the infant stage, individuals with IEM tend to be at high risk of hypercatabolism. Their parents suffered anxiety and distress because of the child’s diet therapy and regarded the parents’ support group as an essential presence, particularly given that IEM is a rare disease. At the school-age stage, as their sphere of social relationships expanded, children with IEM became nervous about being compared with healthy children of their own age because of their diet therapy. At the adolescence-to-adulthood stage, the children suffered medically, economically, and socially. Even in the absence of any IEM symptoms, the children’s QoL was affected by the demands associated with the metabolic disorder, such as diet and treatment. The psychological health of their caregivers was also poor. To improve the QoL of children with IEM and of their parents, future comprehensive quantitative and qualitative studies of their QoL and of their subjective support needs are required. Additionally, the specific factors related to the QoL of such individuals need to be explored in large population-based statistical studies.


Food Allergy Diet Therapy Maple Syrup Urine Disease Maple Syrup Urine Disease GHQ30 Score 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



Argininosuccinic aciduria


Citrin deficiency


Glutaric acidemia




Isovaleric acidemia


Inborn error of metabolism




Maple syrup urine disease


Organic acidemia


Propionic acidemia





This study was supported by a research scholarship from the Pfizer Health Research Foundation 2015–2016 (principal investigator: Rie Wakimizu). The study was partially supported by the Practical Research Project for Rare/Intractable Diseases from the Japan Agency for Medical Research and Development (AMED). I would like to show my greatest appreciation to Flamina Miyamasu for her courteous English proofreading.


  1. Abe S (2012) The experience of the mother who had a child diagnosed by newborn mass-screening [in Japanese]. Jpn J Inherit Metab Dis 28:183Google Scholar
  2. Bosch AM, Burlina A, Cunningham A et al (2015) Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries. Orphanet J Rare Dis 10:80–94Google Scholar
  3. Cazzoria C, Cegolon L, Burlina AP et al (2014) Quality of life assessment in a cohort of patients with phenylketonuria. BMC Public Health 14:1243–1252Google Scholar
  4. Eminoglu TF, Soysai SA, Tumer L et al (2013) Quality of life in children treated with restrictive diet for inherited metabolic disease. Pediatr Int 55(4):428–433Google Scholar
  5. Endo F, Yamaguchi S, Ooura T et al (2013) The handbook of inherited metabolic disease. Nakayama Shoten [in Japanese]Google Scholar
  6. Felix PB (1957) The casework relationship. Loyola University Press. Ozaki A, Fukuda T, Harada K (2015) The Principles of a casework relationship: methodology of establishment of supportive relationship [in Japanese]. Seishin Shobo. New translation revised version. 20–21Google Scholar
  7. Fujiwara K (2013) Suggestion for understanding of amino acid metabolism of nursing from heredity support group [in Japanese]. J Jpn Soc Genet Nurs 11(2):23–28Google Scholar
  8. Gramer G, Haege G, Glahn ME et al (2014) Living with an inborn error of metabolism detected by newborn screening-Parents’ perspectives on child development and impact on family life. J Inherit Metab Dis 37(2):189–195Google Scholar
  9. Ishiyama S, Suzuki E, Nishimura A et al (1987) Diet therapy of children with phenylketonuria : analysis of 4 good control cases and development of program of diet therapy [in Japanese]. Jpn J Child Nurs 10(12):1634–1640Google Scholar
  10. Ito Y, Sirazaki E, Yamazaki Y (2013) Feeling of mothers have child with chronic disease: interview to mothers rearing child at home [in Japanese]. Collect Articles Jpn Nurs Soc Community Nurs 43:99–102Google Scholar
  11. Kashiwagi A (2011) Mass-screening and support for patients: importance of follow-up [in Japanese]. Hokkaido J Public Health 25(1):26Google Scholar
  12. Kashiwagi A (2012) The current situation and future issue of expanding newborn mass-screening [in Japanese]. J Jpn Soc Genet Nurs 10(2):33–36Google Scholar
  13. Kato T, Kashiwagi A (2010) Rare diseases and reconstruction of neonatal screening: wishes of patients [in Japanese]. J Child Health 69(1):3–5Google Scholar
  14. Komatsu S, Shintaku H, Hirata Y et al (2011) The current situation of contract of insurance of target disease of newborn mass-screening [in Japanese]. J Jpn Pediatr Soc 115(10):1573–1579Google Scholar
  15. Kubo K (2007) A basic study on children with mucopolysaccharidoses (MPS) and their families: changes in school-age children and their relationships with doctors [in Japanese]. Annu Bull Dept Nurs 2:31–39Google Scholar
  16. Kubo K, Tamura T (2007) A basic study on children with mucopolysaccharidoses (MPS) and their families: change in MPS children in their infancy based on observations by their parents. Bull Tokyo Gakugei Univ Sci Edu 58:387–395 [in Japanese]Google Scholar
  17. Kubo K, Tazaki C (2008a) Mental condition of Caregivers of patients with mucopolysaccharidosis and factors related to their condition [in Japanese]. J Child Health 67(6):878–884Google Scholar
  18. Kubo K, Tazaki C (2008b) The mind state of health of the family of the mucopolysaccharidosis child and connection with the everyday life care [in Japanese]. Annu Bull Dep Nurs Kyoritsu Women’s Univ Jr Coll 3:103–107Google Scholar
  19. Kubo K, Tasaki C, Oikawa Y (2008) Indication of physical features of infants with mucopolysaccharidosis [in Japanese]. Jpn J Mater Health 49(2):295–302Google Scholar
  20. Kubo K (2010) Investigation of social and psychological problems of the caregiver or family of children with mucopolysaccharidosis [in Japanese]. J Child Health 69(1):63–39Google Scholar
  21. Kubota M (2014) The problems on daily life of children with inherited metabolic disease [in Japanese]. Child Health 17(3):177–180Google Scholar
  22. Kuno N, Yamaguchi K, Morita C (2006) The sense of burden of mother with severely disabled children at home and the related factors [in Japanese]. J Jpn Soc Nurs Res 29(5):59–69Google Scholar
  23. Lambert C, Boneh A (2004) The impact of galactosaemia on quality of life: a pilot study. J Inherit Metab Dis 27(5):601–608Google Scholar
  24. Manba T, Hori H, Takizawa M et al (1997) Family group of children with amino acid metabolism [in Japanese]. J Saitama Med Sch 13(2):81–83Google Scholar
  25. Matsubara Y (2010) The support system for new mass-screening [in Japanese]. Jpn J Inherit Metab Dis 26(1):55–56Google Scholar
  26. Matsumoto Y, Tajima G, Matsumoto Y et al (2014) Analysis of the psychological process of mother who had a child with inherited metabolic disease diagnosed by newborn mass screening : a case of phenylketonuria [in Japanese]. J Jpn Soc Mass Screen 24;2:179Google Scholar
  27. Moriya H, Ishibashi H, Wada K, Inoue I, Mizoguchi M (2012) Recognition on human diversity with mothers of preschool children. Jpn J Genet Nurs 10(2):3–9Google Scholar
  28. Mutoh K, Kurokawa K, Kobayashi K et al (2008) Treatment of a citrin-deficient patient at the early stage of adult-onset type II citrullinaemia with arginine and sodium pyruvate. J Inherit Metab Dis 31(2):343–347Google Scholar
  29. Nagayama K, Kakisawa K, Ookawa Y et al (2011) Twenty-seven patients with hypoglycemic coma requiring hospitalization during oral hypoglycemic treatment [in Japanese]. J Jpn Diab Soc 54(4):271–276Google Scholar
  30. Nakata M, Kurio R, Sugiura S (1998) The consideration on discharge education for children with propionic acidemia: focused on an education of tubal feeding [in Japanese]. Neonatal Care 11(10):883–887Google Scholar
  31. Nikaidou M, Kosuga M (2014) Is Tandem mass screening a genetic screening? [in Japanese] Jpn J Pediatr Med 46(4):452–455Google Scholar
  32. Ogata K, Miyashita K (2003) Examination of the factors relevant to maternal parenting behavior [in Japanese]. Bull Fac Edu Chiba Univ 51:5–15Google Scholar
  33. Ohgino A, Nakamura Y (2010) Factors affecting stress responses and satisfaction with life among mothers of children with chronic illness [in Japanese]. J Jpn Soc Child Health Nurs 19(1):1–7Google Scholar
  34. Okano Y (2011) Phenylketonuria [in Japanese]. Jpn J Pediatr Med 43(9):1509–1511Google Scholar
  35. Okano Y, Kobayashi K, Ihara K et al (2013) Fatigue and quality of life in citrin deficiency during adaptation and compensation stage. Mol Genet Metab 109(1):9–13Google Scholar
  36. Sakoda M, Yotsumot J, Yamamoto K et al (2011) A review of the psychological effects on parents who received positive/false-positive result in newborn screening [in Japanese]. Jpn J Genet Couns 32(4):157–167Google Scholar
  37. Sakoda M, Yamamoto K, Yamaguchi S et al (2013) The life story of the mother who has children with propionic acidemia [in Japanese]. J Jpn Pediatr Soc 117(2):293Google Scholar
  38. Shigematsu Y, Sasakawa Y, Iemori Y et al (2000) The first case with propionic acidemia found in newborn screening by tandem mass spectrometry in Japan: clinical management during infancy [in Japanese]. J Fukui Med Univ 1(2):275–282Google Scholar
  39. Simon E, Schwarz M, Roos J et al (2008) Evaluation of quality of life and description of the sociodemographic state in adolescent and young adult patients with phenylketonuria [in Japanese]. Health Qual Life Outcomes 26(6):25–31Google Scholar
  40. Stockler S, Moesilinger D, Herle M et al (2012) Cultural aspects in the management of inborn errors of metabolism [in Japanese]. J Inherit Metab Dis 35(6):1147–1152Google Scholar
  41. Taketa M, Fujiwara Y, Endou M et al (1991) Nursing for children with propionic acidaemia need lifelong treatment-focusing on education to mother independently and continually [in Japanese]. Jpn J Child Nurs 14(11):1433–1437Google Scholar
  42. Tatematsu S, Ichie K (2008) The feature of lifestyle of children with food allergy and their families, coordination of lifestyle by mothers and mothers’ knowledge of allergy. Jpn J Child Nurs 31(7):942–947Google Scholar
  43. The Ministry of Health Labour and Welfare Equal Employment, Children Families Bureau, Maternal and Child health Division (2013) The implementation status of screening of inherited metabolic diseases [in Japanese].
  44. The Ministry of Health Labour and Welfare (2015) Research Grant for Research on Measures for Intractable Diseases [in Japanese]. nitsuite/bunya/hokabunya/kenkyujigyou/hojokin-koubo-h26/gaiyo/13.html
  45. Ueno K, Tochibora Y, Kado C et al (1990) Nursing of children with isovaleric acidemia: looking back to discharge education [in Japanese]. Jpn J Child Nurs 13(9):1153–1160Google Scholar
  46. Warren CM, Gupta RS, Sohn MW et al (2015) Differences in empowerment and quality of life among parents of children with food allergy. Ann Allergy Asthma Immunol 114(2):117–125Google Scholar
  47. Yuhara H, Fujino Y, Sekiya T et al (1991) A metabolic disease (phenylketonuria) and breast feeding [in Japanese]. Jpn J Perinat Care 10(6):477–485Google Scholar
  48. Yoshimoto M, Nishiuchi S, Nishina K et al (1990) The study of function and role and position of home-nursing visit related to QoL of children with severe motor and intellectual disabilities and their families rearing at home: focused on the survey of their needs, for systemization of a network of care of children with disabilities [in Japanese]. J Sever Motor Intellect Disabil. 24(1):53–62Google Scholar
  49. Yoshino M, Watanabe Y, Ohira T et al (2010) Phenylketonuria: toward a better carry-over care [in Japanese]. Jpn J Clin Med 68(1):123–126Google Scholar
  50. Yoshida Y (2011) Education for improving self-care ability on pediatric nursing field: looking back to involvement with early adolescent suffered from bronchial asthma repeatedly [in Japanese]. Kawasaki Hosp Res Bull 13:5–8Google Scholar
  51. Zeltner NA, Huemer M, Baumgartner MR et al (2014) Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism: a systematic review. Orphanet J Rare Dis 9(1):159–177Google Scholar

Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2016

Authors and Affiliations

  1. 1.Department of Nursing Science Master’s ProgramGraduate School of Comprehensive Human Sciences, University of TsukubaTsukubaJapan
  2. 2.Faculty of Medicine, Division of Health Innovation and Nursing, Department of Child Health Care NursingUniversity of TsukubaTsukubaJapan
  3. 3.Department of General Pediatrics and Interdisciplinary MedicineNational Center for Child Health and DevelopmentTokyoJapan

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