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J Pediatr Intensive Care 2022; 11(03): 183-192
DOI: 10.1055/s-0040-1721738
Original Article

Inborn Errors of Metabolism in a Tertiary Pediatric Intensive Care Unit

Patrícia Lipari 
1   Department of Pediatrics, Santa Maria's Hospital - Lisbon North University Hospital Center, EPE, Pediatric University Clinic, Faculty of Medicine, University of Lisbon, Lisbon, Portugal
,
Zakhar Shchomak
1   Department of Pediatrics, Santa Maria's Hospital - Lisbon North University Hospital Center, EPE, Pediatric University Clinic, Faculty of Medicine, University of Lisbon, Lisbon, Portugal
,
Leonor Boto 
2   Pediatric Intensive Care Unit, Department of Pediatric, Santa Maria's Hospital - Lisbon North University Hospital Center, EPE, Pediatric University Clinic, Faculty of Medicine, University of Lisbon, Lisbon, Portugal
,
Patrícia Janeiro
3   Metabolic Diseases Unit, Department of Pediatric, Santa Maria's Hospital - Lisbon North University Hospital Center, EPE, Pediatric University Clinic, Faculty of Medicine, University of Lisbon, Lisbon, Portugal
,
Oana Moldovan 
4   Department of Medical Genetics, Santa Maria's Hospital - Lisbon North University Hospital Center, EPE, Pediatric University Clinic, Faculty of Medicine, University of Lisbon, Lisbon, Portugal
,
Francisco Abecasis 
2   Pediatric Intensive Care Unit, Department of Pediatric, Santa Maria's Hospital - Lisbon North University Hospital Center, EPE, Pediatric University Clinic, Faculty of Medicine, University of Lisbon, Lisbon, Portugal
,
Ana Gaspar
3   Metabolic Diseases Unit, Department of Pediatric, Santa Maria's Hospital - Lisbon North University Hospital Center, EPE, Pediatric University Clinic, Faculty of Medicine, University of Lisbon, Lisbon, Portugal
,
Marisa Vieira
2   Pediatric Intensive Care Unit, Department of Pediatric, Santa Maria's Hospital - Lisbon North University Hospital Center, EPE, Pediatric University Clinic, Faculty of Medicine, University of Lisbon, Lisbon, Portugal
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Abstract

Few studies exist describing resources and care of pediatric patients with inborn errors of metabolism (IEM) admitted to pediatric intensive care unit (PICU). This study aims to characterize the PICU admissions of these patients to provide better diagnostic and therapeutic care in the future. Retrospective analysis of pediatric patients with IEM admitted to the PICU of a tertiary care center at a metabolic referral university hospital from 2009 to 2019 was included. Clinical information and demographic data were collected from PICU clinical records. During this period, 2% (n = 88 admissions, from 65 children) out of 4,459 PICU admissions had clinical features of IEM. The median age was 3 years (range: 3 days–21 years) and 33 were male. Median age at diagnosis was 3 months; 23/65 patients with intoxication disorders, 21/65 with disorders of energy metabolism, 17/65 with disorders of complex molecules, and 4/65 with other metabolic diseases (congenital lipodystrophy, Menkes' disease, hyperammonemia without a diagnosis). From a total of 88 admissions, 62 were due to metabolic decompensation (infection—38, neonatal period decompensation—14, external accident—5, prolonged fasting—2, and therapeutic noncompliance—3) and 26 elective admissions after a scheduled surgery/elective procedure. The most frequent clinical presentations were respiratory failure (30/88) and neurological deterioration (26/88). Mechanical ventilation was required in 30 patients and parenteral nutrition in 6 patients. Extracorporeal removal therapy was required in 16 pediatric patients (12 with maple syrup urine disease and 4 with hyperammonemia) with a median duration of 19 hours. The median length of PICU stay was 3.6 days (3 hours–35 days). Eight patients died during the studied period (cerebral edema—2, massive hemorrhage—5, and malignant arrhythmia—1). Acute decompensation was the main cause of admission in PICU in these patients. The complexity of these diseases requires specialized human and technical resources, with an important impact on the recovery and survival of these patients.

Keywords

inborn errors of metabolism - pediatric intensive care unit - referral center


Publication History

Received: 19 July 2020

Accepted: 07 November 2020

Article published online:
15 December 2020

© 2020. Thieme. All rights reserved.

Georg Thieme Verlag KG
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  • References

  • 1 Sivaraman RP, Balakrishnan U, Chidhambaram S, Tarikare S, Sankaranarayanan S. Profile and outcome of children with inborn errors of metabolism in a tertiary pediatric intensive care unit in South India. Indian Journal of Child Health 2019; 6 (03) 104-109
    CrossrefPubMedSearch in Google Scholar
  • 2 Kamate M, Chetal V, Kulgod V, Patil V, Christopher R. Profile of inborn errors of metabolism in a tertiary care centre PICU. Indian J Pediatr 2010; 77 (01) 57-60
    CrossrefPubMedSearch in Google Scholar
  • 3 Dionisi-Vici C, Rizzo C, Burlina AB. et al. Inborn errors of metabolism in the Italian pediatric population: a national retrospective survey. J Pediatr 2002; 140 (03) 321-327
    CrossrefPubMedSearch in Google Scholar
  • 4 Agana M, Frueh J, Kamboj M, Patel DR, Kanungo S. Common metabolic disorder (inborn errors of metabolism) concerns in primary care practice. Ann Transl Med 2018; 6 (24) 469-469
    CrossrefPubMedSearch in Google Scholar
  • 5 Champion MP. An approach to the diagnosis of inherited metabolic disease. Arch Dis Child Educ Pract Ed 2010; 95 (02) 40-46
    CrossrefPubMedSearch in Google Scholar
  • 6 Dias Costa F, Moinho R, Ferreira S. et al. [Acute liver failure related to inherited metabolic diseases in young children]. An Pediatr (Barc) 2018; 88 (02) 69-74
    PubMedSearch in Google Scholar
  • 7 Chapman KimberlyA. Practical management of organic acidemias. Transl Sci Rare Dis 2019; 4 (3-4): 121-131
    PubMedSearch in Google Scholar
  • 8 Frazier DM, Allgeier C, Homer C. et al. Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach. Mol Genet Metab 2014; 112 (03) 210-217
    CrossrefPubMedSearch in Google Scholar
  • 9 Aldubayan SH, Rodan LH, Berry GT, Levy HL. Acute illness protocol for fatty acid oxidation and carnitine disorders. Pediatr Emerg Care 2017; 33 (04) 296-301
    CrossrefPubMedSearch in Google Scholar
  • 10 European Reference Network for Hereditary Metabolic Disorders. Available at: Accessed April 2020 https://metab.ern-net.eu/centro-hospitalar-lisboa-norte-e-p-e/
    PubMed
  • 11 Narkewicz MR, Olio DD, Karpen SJ. et al. Pattern of diagnostic evaluation for the causes of pediatric acute liver failure: an opportunity for quality improvement. J Pediatr 2009; 155 (06) 801-806
    CrossrefPubMedSearch in Google Scholar
  • 12 Saudubray JM, Baumgartner M, Walter J. Inborn Metabolic Diseases: Diagnosis and Treatment. Germany: Springer; 2016
    CrossrefSearch in Google Scholar
  • 13 Jouvet P, Touati G, Lesage F. et al. Impact of inborn errors of metabolism on admission and mortality in a pediatric intensive care unit. Eur J Pediatr 2007; 166 (05) 461-465
    CrossrefPubMedSearch in Google Scholar
  • 14 Ruttimann UE, Patel KM, Pollack MM. Relevance of diagnostic diversity and patient volumes for quality and length of stay in pediatric intensive care units. Pediatr Crit Care Med 2000; 1 (02) 133-139
    CrossrefPubMedSearch in Google Scholar
  • 15 Isabel I-G, Cynthia F-L, Diana R-G. et al. Inborn errors of intermediary metabolism in critically ill Mexican newborns. J Inborn Errors Metab Screen 2014; 2: 2
    PubMedSearch in Google Scholar
  • 16 Martins AM. Inborn errors of metabolism: a clinical overview. Sao Paulo Med J 1999; 117 (06) 251-265
    CrossrefPubMedSearch in Google Scholar
  • 17 Rennie JM. Rennie & Roberton's Textbook of Neonatology. Churchill Livingstone, UK: 2012
    Search in Google Scholar
  • 18 Celik M, Akdeniz O, Ozgun N, Ipek MS, Ozbek MN. Short-term results of continuous venovenous haemodiafiltration versus peritoneal dialysis in 40 neonates with inborn errors of metabolism. Eur J Pediatr 2019; 178 (06) 829-836
    CrossrefPubMedSearch in Google Scholar
  • 19 Zamberlan P, Delgado AF, Leone C, Feferbaum R, Okay TS. Nutrition therapy in a pediatric intensive care unit: indications, monitoring, and complications. J Parenter Enteral Nutr 2011; 35 (04) 523-529
    CrossrefPubMedSearch in Google Scholar
  • 20 Stratton RJ, Elia M. Who benefits from nutritional support: what is the evidence?. Eur J Gastroenterol Hepatol 2007; 19 (05) 353-358
    CrossrefPubMedSearch in Google Scholar