A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD)

Background: Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare inherited mitochondrial fatty acid oxidation disorder associated with variations in the ACADS (Acyl-CoA dehydrogenase, C-2 to C-3 short chain) gene. SCADD has highly variable biochemical, genetic and clinical characteristics. Phenotypes vary from fatal metabolic decompensation to asymptomatic individuals. Subject and methods: A Romani boy presented at 3 days after birth with hypoglycaemia, hypotonia and respiratory pauses with brief generalized seizures. Afterwards the failure to thrive and developmental delay were present. Organic acids analysis with gas chromatography-mass spectrometry (GS/MS) in urine and acylcarnitines analysis with liquid chromatography-tandem mass spectrometry (LC-MS/MS) in dried blood spot were measured. Deoxyribonucleic acid (DNA) was isolated from blood and polymerase chain reactions (PCRs) were performed for all exons. Sequence analysis of all exons and flanking intron sequences of ACADS gene was performed. Results: Organic acids analysis revealed increased concentration of ethylmalonic acid. Acylcarnitines analysis showed increase of butyrylcarnitine, C4-carnitine. C4-carnitine was 3.5 times above the reference range (<0.68 µmol/L). Confirmation analysis for organic acids and acylcarnitine profile was performed on the second independent sample and showed the same pattern of increased metabolites. Sequence analysis revealed 3-bp deletion at position 310-312 in homozygous state (c.310_312delGAG). Mutation was previously described as pathogenic in heterozygous state, while it is in homozygous state in our patient. Conclusions: In our case clinical features of a patient, biochemical parameters and genetic data were consistent and showed definitely SCAD deficiency

Determination of Cd, Pb and As in sediments of the Sava River by electrothermal atomic absorption spectrometry

Abstract: The applicability of nitric acid, palladium nitrate and a mixture of palladium and magnesium nitrate as matrix modifiers was estimated for the accurate and reproducible determination of cadmium (Cd), lead (Pb) and arsenic (As) in sediments of the Sava River by electrothermal atomic absorption spectrometry, ETAAS. Decomposition of the samples was done in a closed vessel microwave-assisted digestion system using nitric, hydrochloric and hydrofluoric acids, followed by the addition of boric acid to convert the fluorides into soluble complexes. The parameters for the determination of Cd, Pb and As in sediments were optimised for each individual element and for each matrix modifier. In addition, two sediment reference materials were also analysed. In determination of Cd and Pb, nitric acid was found to be the most appropriate matrix modifier. The accurate and reliable determination of Cd and Pb in sediments was possible also in the presence of boric acid. The use of a mixture of palladium and magnesium nitrate efficiently compensated for matrix effects and enabled the accurate and reliable determination of As in the sediments

Determination of Cd, Pb and As in sediments of the Sava River by electrothermal atomic absorption spectrometry

The applicability of nitric acid, palladium nitrate and a mixture of palladium and magnesium nitrate as matrix modifiers were estimated for the accurate and reproducible determination of cadmium (Cd), lead (Pb) and arsenic (As) in sediments of the Sava River by electrothermal atomic absorption spectrometry, ETAAS. Decomposition of the samples was done in a closed vessel microwave-assisted digestion system using nitric, hydrochloric and hydrofluoric acids, followed by the addition of boric acid to convert the fluorides into soluble complexes. The parameters for the determination of Cd, Pb and As in sediments were optimised for each individual element and for each matrix modifier. In addition, two sediment reference materials were also analysed. In determination of Cd and Pb, nitric acid was found to be the most appropriate matrix modifier. The accurate and reliable determination of Cd and Pb in sediments was possible also in the presence of boric acid. The use of a mixture of palladium and magnesium nitrate efficiently compensated for matrix effects and enabled the accurate and reliable determination of As in the sediments. Quantification of Cd and As was performed by calibration using acid matched standard solutions, while the standard addition method was applied for the quantification of Pb. The repeatability of the analytical procedure for the determination of Cd, Pb and As in sediments was ±5 % for Cd, ±4 % for Pb and ±2 % for As. The LOD values of the analytical procedure were found to be 0.05 mg/kg for Cd and 0.25 mg/kg for Pb and As, while the LOQ values were 0.16 mg/kg for Cd and 0.83 mg/kg for Pb and As. Finally, Cd, Pb and As were successfully determined in sediments of the Sava River in Slovenia

Liver transplantation in glycogen storage disease type Ib: The role of SGLT2 inhibitors

We report on liver transplantation in two patients with GSD Ib on treatment with empagliflozin. The use of this SGLT2 inhibitor resulted in a marked decrease of 1,5-anhydroglucitol which has an important role in the development of neutropenia in this condition. As intended, this caused a significant rise of neutrophil numbers. Liver transplantation alone did not produce the desired effect and our observation argues for continuing SGLT2 inhibitor treatment after transplantation

Newborn Screening in Slovenia / Presejanje Novorojencev V Sloveniji

Uvod. Presejanje novorojencev v Sloveniji se je začelo leta 1979 s presejanjem za fenilketonurijo (PKU). Leta 1981 je bil v program presejanja dodan še kongenitalni hipotireoidizem (CH). Cilj te raziskave je analiza podatkov presejanja novorojencev v Sloveniji v obdobju med letoma 1993 in 2012 za PKU ter med letoma 1991 in 2012 za CH. Metode. Vzorci krvi so bili odvzeti petim novorojencem med tretjim in petim dnem življenja. Pri presejanju za PKU se uporablja fluorometrična metoda, presejanje za CH pa poteka z metodo DELFIA. Rezultati. Od leta 1993 do leta 2012 je bil presejalni test za PKU izveden pri 358.831 novorojencih. Pri 57 otrocih je bil PKU potrjen. Pri 427.396 novorojencih med letoma 1991 in 2012 je bil izveden presejalni test za CH. Pri 184 otrocih je bil CH potrjen. V navedenih obdobjih je bila incidenca PKU 1:6769 in incidenca CH 1:2323. Zaključki. Uspešna implementacija presejanja novorojencev za PKU in CH je imela pomembno vlogo pri preprečevanju resnih zapletov pri obolelih otrocih. Smiselno bi bilo v program presejanja vključiti nove metabolne bolezni

Newborn screening in southeastern Europe

The aim of our study was to assess the current state of newborn screening (NBS) in the region of southeastern Europe, as an example of a developing region, focusing also on future plans. Responses were obtained from 11 countries. Phenylketonuria screening was not introduced in four of 11 countries, while congenital hypothyroidism screening was not introduced in three of them; extended NBS programs were non-existent. The primary challenges were identified. Implementation of NBS to developing countries worldwide should be considered as a priority