1. 3

2. autosomal recessive disease deficiency of glutaryl-CoA dehydrogenase 1 : 100 000 GCDH gene chromosome 19p13.2

5. #1 The accurate diagnosis of GA-I has important practical implications when devising treatment plans and giving appropriate information to children and their families. #2 For mass newborn screening for glutaric aciduria type I determination of C5DC in DBS by MS/MS should be used

6. High excretors: Amish Lumbee Irish Travellers Low excretors: Oji-Cree natives

7. #3 In a cohort with a high disease incidence due to a single common GCDH mutation and a low excretor phenotype, DNA based methods should be considered for newborn screening. The use of MS/MS-based screening in such populations will likely lead to false negative results

9. # 4: For the confirmation of a positive newborn screening result, a specific diagnostic workup is required, including a quantitative analysis of GA and 3-OH-GA

10. #5 …….GCDH gene mutation analysis, and/or enzyme analysis #6 Metabolic treatment ……. by an interdisciplinary team….. (metabolic pediatrian, dietetist, nurse) + parents and patients training #7 low lysine diet #8. L-Carnitine #9. Emergency treatment

11. #9. Emergency treatment should start without delay and should be performed aggressively during febrile illness, surgery and immunization within the vulnerable period for acute encephalopathic crises (up to age 6 years) #10 > 6 years …..

13. #11 neurological evaluation #12 Baclofene and/or diazepanes in case of dystomnia #13 Antiepileptic drugs ……. VALPROATE

14. #15. Glutaric aciduria type I should be excluded in children with suspected shaken baby syndrome #14. Children with subdural haemorrhage and/or bitemporal arachnoid cysts should be investigated for glutaric aciduria GA I ?

15. #16 neurosorgical interventions - pediatric neurosurgeon #17 monitoring in any age, in case of new complications #18 Urine analysis of GA and 3-OH-GA is not informative for therapy monitoring

16. # 19 Amino acids monitoring # 20 Carnitine monitoring (avoid secondary depletion) #21 Neuroradiologic investigation

17. Děkuji za pozornost