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Introduction: The aim of this work was to evaluate to what extent the scope and content of information provided to patients is standardized across medical biochemistry laboratories in Croatia., Materials and Methods: Two on-line self-report surveys were sent out: Survey A regarding attitudes on importance of patient preparation and Survey B on the contents of patient preparation instructions., Results: 13/118 laboratories (11%) do not provide written instructions to patients on how to prepare for laboratory testing, and 36 (40%) do not include information about water intake in their instructions. Only half of laboratories provide instructions for prostate-specific antigen (53.8%), female sex hormones (53.7%) and therapeutic drug monitoring (TDM) (52.5%). Inadequate information about fasting status (55.0%) and 24 hour urine collection (77.9%) were frequent errors with high severity and were associated with the greatest potential to cause patient harm., Conclusions: Laboratory professionals in Croatia have a positive attitude towards the importance of patient preparation for laboratory testing. However, the information for laboratory testing is not standardized and frequently lacks guidance for tests related to TDM, coagulation and endocrinology. This study highlights the need for standardized, updated and evidence-based recommendations for patient preparation in order to minimize the risk for patients., (Copyright © 2015 Elsevier B.V. All rights reserved.)

Background: We report a boy with an unusually late presentation of Farber lipogranulomatosis type l., Case Study: The first symptoms appeared at the end of the first year of life in the form of joint swelling; other symptoms such as cherry-red spot, hoarseness, subcutaneous nodules appeared much later. The history of the disease, from the first symptoms till his early death, lasted 26.5 months. The neuronal dysfunction accompanied by the rapid neurological deterioration with seizures and myoclonias, rather than the general dystrophy, seemed to limit the duration of disease in our patient and provoked his early death. Diagnosis was confirmed by analysis of ceramide metabolism in cultured fibroblasts and of the ASAH1 gene, which indicated homozygosity for a novel point mutation., Conclusion: The deficient activity of acid ceramidase correlated well with poor prognosis of the disease in our boy, in contrast to late appearance of dermal nodules and the subsequent severe clinical course with fatal outcome. Farber lipogranulomatosis should be suspected in children with joint swelling as the first and only symptom of disease. In order to advance our knowledge towards establishing genotype-phenotype correlations in Farber's disease, detailed analysis of the ASAH1 gene is needed., (Copyright © 2010 European Paediatric Neurology Society. All rights reserved.)

Recently, a proven case of human S-adenosylhomocysteine-hydrolase (SAHH) deficiency was reported in a Croatian boy. As molecular analysis of the SAHH gene in this case revealed two different mutant alleles, we investigated the polymorphism of human SAHH in a total of 237 red blood samples from unrelated Croats using starch gel electrophoresis and an enzyme-specific staining procedure. From the relative enzymatic activity of SAHH--determined by densitometric assessment of electrophoretic patterns, and calculated on the basis of the protein concentration of the red blood cells-we detected three individuals as being heterozygous for an SAHH 0-allele. Moreover, a total of four different electromorphic SAHHs have been observed, giving allele frequencies calculated as SAHH 1 = 0.941, SAHH 2 = 0.032, SAHH 3 = 0.006, SAHH 4 = 0.015, and SAHH 0 = 0.006.

We present the results of a comprehensive analysis of mutations, polymorphisms and haplotypes in the phenylalanine hydroxylase (PAH) gene in 39 Croatian families with phenylketonuria (PKU). A total of 21 disease-causing mutations was identified on 78 out of 79 independent chromosomes. The commonest mutation, R408W on haplotype 2 was found with a relative frequency of 37 %. P281L accounted for 11 %, R261Q and E390G each for 9 % of mutant chromosomes. There were three novel mutations: L249P (c.746T>C) in exon 7, IVS8+2T>C (c.912T>C) in intron 8, and F402L (c.1206T>G) in exon 12 of the PAH gene. Two known PKU mutations were found in cis on the same chromosome in one family, highlighting the need to perform full mutation scanning in recessive disease genes for molecular diagnosis even if two known mutations have been identified in a patient. This is the first comprehensive report on PKU mutations in southeastern Europe, adding to the growing bulk of molecular data for population genetic investigations., (Copyright 2003 Wiley-Liss, Inc.)