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4 Acta Biochimica Polonica

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Investigation of a wide spectrum of inherited metabolic disorders by 13C NMR spectroscopy

100%

Bal D. , Kraska-Dziadecka A. , Gradowska W. , Gryff-Keller A.

Acta Biochimica Polonica

2008

tom 55

nr 1

107-118

High-resolution 1H NMR spectroscopy of body fluids has proved to be very useful in diagnostics of inherited metabolic diseases, whereas 13C NMR remains almost unexploited. In this paper the application of 13C NMR spectroscopy of fivefold concentrated urine samples for diagnosis of selected metabolic diseases is reported. Various marker metabolites were identified in test urine samples from 33 patients suffering from 10 different diseases, providing information which could be crucial for their diagnoses. Spectra were accumulated for 2 h or overnight when using spectrometers operating at 9.4 or 4.7 T magnetic fields, respectively. Interpretation of the measurement results was based on a comparison of the peak positions in the measured spectrum with reference data. The paper contains a table with 13C NMR chemical shifts of 73 standard compounds. The method can be applied individually or as an auxiliary technique to 1H NMR or any other analytical method.

Biochemical and clinical characteristics of creatine deficiency syndromes.

100%

Sykut-Cegielska J. , Gradowska W. , Mercimek-Mahmutoglu S. , Stöckler-Ipsiroglu S.

Acta Biochimica Polonica

2004

tom 51

nr 4

875-882

Creatine deficiency syndromes are a newly described group of inborn errors of creatine synthesis (arginine:glycine amidinotransferase (AGAT) deficiency and guanidinoacetate methyltransferase (GAMT) deficiency) and of creatine transport (creatine transporter (CRTR) deficiency). The common clinical feature of creatine deficiency syndromes is mental retardation and epilepsy suggesting main involvement of cerebral gray matter. The typical biochemical abnormality of creatine deficiency syndromes is cerebral creatine deficiency, which is demonstrated by in vivo proton magnetic resonance spectroscopy. Measurement of guanidinoacetate in body fluids may discriminate between the GAMT (high concentration), AGAT (low concentration) and CRTR (normal concentration) deficiencies. Further biochemical characteristics include changes in creatine and creatinine concentrations in body fluids. GAMT and AGAT deficiency are treatable by oral creatine supplementation, while patients with CRTR deficiency do not respond to this type of treatment. The creatine deficiency syndromes are underdiagnosed, so their possibility should be considered in all children affected by unexplained mental retardation, seizures and speech delay.

Identification of 2-[2-nitro-4-(trifluoromethyl)benzoyl]- cyclohexane-1,3-dione metabolites in urine of patients suffering from tyrosinemia type I with the use of 1H and 19F NMR spectroscopy

100%

Szczeciński P. , Lamparska D. , Gryff-Keller A. , Gradowska W.

Acta Biochimica Polonica

2008

tom 55

nr 4

749-752

Organic extracts of six urine samples from children treated with nitisinone, a medicine against tyrosinemia type I, were investigated by 1H and 19F NMR spectroscopy. The presence of unchanged 2-[2-nitro-4-(trifluoromethyl)benzoyl]cyclohexane-1,3-dione (NTBC), 6-hydroxy-2-[2-nitro-4-(trifluoromethyl)benzoyl]cyclohexane-1,3-dione (NTBC-OH) and 2-nitro-4-trifluoromethylbenzoic acid (NTFA) as well as a few other unidentified compounds containing CF3 group was documented.

Dihydropyrimidine dehydrogenase deficiency presenting with psychomotor retardation in the first Polish patient

63%

Mazur A. , Figurski S. , Płoskoń A. , Meijer J. , Zoetekouw L. , Wątróbska S. , Sykut-Cegielska J. , Gradowska W. , André B.P van Kuilenburg

Acta Biochimica Polonica

2008

tom 55

nr 4

787-790

Dihydropyrimidine dehydrogenase (DPD) deficiency is a rare defect of the first step of the pyrimidine catabolic pathway. Patients with a complete enzyme deficiency may be clinically asymptomatic or suffer from neurological abnormalities of various severity. We report a case of an 8-year-old girl with psychomotor retardation and mild course of the disease. Analysis of urine showed strongly elevated levels of uracil and thymine, and no DPD activity could be detected in peripheral blood mononuclear cells. Sequence analysis of the DPD gene (DPYD) revealed that our patient was homozygous for the common splice-site mutation IVS14+1G > A, which suggest that the carrier status for this mutation may be not rare in the Polish population.