Importance of early diagnostics of inherited metabolic disorders in neonatal age
Authors:
M. Magner 1; P. Ješina 2; P. Klement 1; D. Lorenčík 1; V. Vobruba 1; J. Zeman 1,2; T. Honzík 1,2
Authors‘ workplace:
Klinika dětského a dorostového lékařství UK 1. LF a VFN, Prahapřednosta prof. MUDr. J. Zeman, DrSc.
1; Ústav dědičných metabolických poruch UK 1. LF a VFN, Prahapřednosta prof. MUDr. V. Kožich, CSc.
2
Published in:
Čes-slov Pediat 2013; 68 (1): 3-11.
Category:
Original Papers
Overview
More than one quarter of 900 known inherited metabolic disorders (IMD) may manifest in the neonatal age. Their diagnostics is demanding. The correct and early diagnosis with subsequent therapy introduction may have a substantial impact on further prognosis of the child.
Case reports of three children with manifestation of IMD in neonatal age and late diagnosis are presented. On contrary, assessment of early diagnosis saved favourable prognosis of the child with galactosemia and enabled the early introduc-tion of adequate therapy in a child with alpha-1-antitrypsin deficit. The first girl with methymalonic aciduria manifested sepsis-like state with hyperventilation, consciousness disorder and seizures, severe metabolic acidosis and hyperammonemia. The liver failure was the main symptom of the girl with galactosemia. The boy from the third case report with glycogenosis type Ib showed repeated hypoglycamiae. The leading symptom of mitochondrial disorder in the fourth newborn – with ATP synthesis deficiency due to mutation in TMEM70 gene was the hypertrophic cardiomyopathy. The alpha-1-antitrypsin deficit was determined in the fifth boy with hepatopathy. The acute and life-threatening state typically occurs after period of relative health in acute intoxication type of IMD. The relations of ketonuria and significant metabolic acidosis or hyperammonemia are often present. The selective IMD screening or comprehensive metabolic investigation in the specialized center is indicated in case of suspicion on IMD based on clinical and laboratory signs. Early assessment of diagnosis of potentially treatable IMD plays an enourmous role in further prognosis of the child.
Key words:
inherited metabolic disorders, neonate
Sources
1. Pospíšilová E, Mrázová L, Klement P, et al. Methylmalo-nová acidémie: Klinická, biochemická a molekulárně biologická studie. Čes-slov Pediat 2006; 4: 190–198.
2. Dvořáková L, Hřebíček M, Vlášková H, et al. Význam molekulárně genetického vyšetření pro diagnostiku a genetické poradenství v rodinách s hyperamonémií a deficitem ornithin-karbamoyltransferázy. Čes-slov Pediat 2010; 10: 575–579.
3. Zeman J, Kmoch S, Ondrová L, et al. Poruchy „medium chain“ acyl-CoA dehydrogenázy (MCAD) a „long chain“ 3-OH-acyl-CoA dehydrogenázy (LCHAD): Klinická, biochemická a molekulárně biologická studie u 10 dětí. Čes-slov Pediat 1998; 5: 251–255.
4. Berry GT. Galactosemia: when is it a newborn screening emergency? Mol Genet Metab 2012 May; 106: 7–11.
5. Honzík T, Kytnarová K. Diferenciální diagnostika hypoglykemických stavů v dětském věku. Vox Pediatriae 2009; 1: 17–21.
6. Kabíček P, Chrastina P, Dvořáková L, et al. Rabdo-myolýza po fyzické námaze – benigní nález nebo projev závažného onemocnění? Prakt Lék 2006; 7: 393–395.
7. Honzík T, Tesařová M, Hansíková H, et al. Klinické příznaky a laboratorní data u 75 dětí s neonatální manifestací mitochondriálního onemocnění: návrh diagnostických algoritmů. Čes-slov Pediat 2010; 7–8: 422–431.
8. Honzik T, Tesarova M, Magner M, et al. Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis. J Inherit Metab Dis Metab Dis 2012 [Epub ahead of print].
9. Šťastná S, Pešková K, Elleder M, et al. Glykogenóza typu II – Infantilní forma (morbus Pompe) v české a slovenské populaci. Čes-slov Pediat 2003; 7: 436–440.
10. Honzík T, Hansíková H, Flachsová E, et al. Klinické projevy a výsledky metabolických a molekulárních analýz u 8 dětí s dědičnou poruchou glykosylace proteinů typ I. Čes-slov Pediat 2003; 7: 456–460.
11. Magner M, Veselá K, Hansíková H, et al. Kazuistika dívky s dědičnou poruchou glykosylace. Pediatr praxi 2009; 5: 329–330.
12. Cohen Jr MM. Beckwith-Wiedemann syndrome: Historical, clinicopathological and ethiopathogenetic perspectives. Pediatric and Developmental Pathology 2005; 3: 287–304.
13. Hoban R, Roberts AE, Demmer L, et al. Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant. Am J Med Genet A 2012; v tisku.
14. Dvorakova L, Sikora J, Hrebicek M, et al. Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder? J Inherit Metab Dis 2006; 4: 591.
15. Smolka V. Nemoc ze střádání esterů cholesterolu – Efekt dlouhodobé léčby lovastatinem. Čes Slov Gastroenterol Hepatol 2007; 1: 30–33.
16. Chandoga J, Petrovic R. Peroxizómové dedičné metabolické choroby. Čas Lék čes 2001; 21: 651–657.
17. Kotalová R, Cebecauerová D, Knisely AS, et al. Progressive familial intrahepatic cholestasis – Manifestations and diagnosis in infancy. Čes-slov Pediat 2006; 4: 200–206.
18. Seemanová E. Alagilleův syndrom – Arteriohepatická dysplazie. Čes-slov Pediat 2003; 6: 381–383.
19. Malinová V, Poupětová H, Dvořáková L, et al. Enzyme replacement therapy for Gaucher disease in twin pregnancy. Int J Gynaecol Obstet 2009; 1: 64–66.
20. Honzík T. Klinické příznaky dědičných metabolických poruch u dětí. Pediatr praxi 2011; 5: 314–319.
21. Kožich V, Zeman J. Dědičné metabolické poruchy v pediatrii. Postgraduální medicína 2010; 7: 793–800.
22. Votava F, Kožich V, Šťastná S, et al. Novorozenecký screening v České republice. Postgraduální medicína 2010; 12(7): 785–791.
23. Vinohradská H, Kožich V, Adam T, et al. Změna systému novorozeneckého screeningu v České republice. Vox Pediatriae 2010; 10 (3).
Labels
Gynaecology and obstetrics Internal medicine Neonatology Neurology Paediatrics General practitioner for children and adolescents General practitioner for adultsArticle was published in
Czech-Slovak Pediatrics
2013 Issue 1
Most read in this issue
- A massive pulmonary embolism as a first symptom of nephrotic syndrome in 18-years old female patient
- Importance of early diagnostics of inherited metabolic disorders in neonatal age
- Somatic development of the child and injury incidence during the pubertal spurt – new knowledge of the correlation between growth dynamics and injury risk in the present population of children
- Analysis of risk factors concerning suicidal behavior in childhood and adolescence