Petra Konečná

Controlled diet in phenylketonuria and hyperphenylalaninemia may cause serum selenium deficiency in adult patients: the Czech experience

Phenylketonuria is an inherited disorder of metabolism of the amino acid phenylalanine caused by a deficit of the enzyme phenylalanine hydroxylase. It is treated with a low-protein diet containing a low content of phenylalanine to prevent mental affection of the patient. Because of the restricted intake of high-biologic-value protein, patients with phenylketonuria may have lower than normal serum concentrations of pre-albumin, selenium, zinc and iron. The objective of the present study was to assess the compliance of our phenylketonuric (PKU) and hyperphenylalaninemic (HPA) patients; to determine the concentration of serum pre-albumin, selenium, zinc and iron to discover the potential correlation between the amount of proteins in food and their metabolic control. We studied 174 patients of which 113 were children (age 1–18), 60 with PKU and 53 with HPA and 61 were adults (age 18–42), 51 with PKU and 10 with HPA. We did not prove a statistically significant difference in the concentration of serum pre-albumin, zinc and iron among the respective groups. We proved statistically significant difference in serum selenium concentrations of adult PKU and HPA patients (p = 0.006; Mann–Whitney U test). These results suggest that controlled low-protein diet in phenylketonuria and hyperphenylalaninemia may cause serum selenium deficiency in adult patients.

A p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome: A Case Report

Wolfram-like syndrome (WFSL) is a rare autosomal dominant disease characterised by congenital progressive hearing loss, diabetes mellitus, and optic atrophy. The patient was a boy with the juvenile form of diabetes mellitus and findings which clinically matched the symptoms of Wolfram syndrome. At the age of 3 1/4 years, diabetes mellitus was diagnosed in this boy who also had severe psychomotor retardation, failure to thrive, a dysmorphic face with Peters anomaly type 3 (i.e. posterior central defect with stromal opacity of the cornea, adhering stripes of the iris, and cataract with corneolenticular adhesion), congenital glaucoma, megalocornea, severe hearing impairment, a one-sided deformity of the auricle with atresia of the bony and soft external auditory canal, non-differentiable eardrum, missing os incus, hypothyreosis, and nephrocalcinosis. Molecular-genetic examinations revealed a de novo mutation p.(Glu809Lys) in the WFS1 gene. No mutations were detected in the biological parents. The mutation p.(Glu809Lys) in the WFS1 gene is associated with WFSL.

Long-term treatment for hyperphenylalaninemia and phenylketonuria: a risk for nutritional vitamin B12 deficiency?

Abstract Purpose: The objective of the study was to determine the incidence of vitamin B12 deficiency in patients under long-term treatment for phenylketonuria (PKU) and hyperphenylalaninemia (HPA), as well as its associations with B12 vitamin parameters (holotranscobalamin – active vitamin B12, serum folate, total plasma homocysteine, and plasma methylmalonic acid concentration). Patients and methods: The group consisted of 51 PKU (n=29) and HPA (n=22) patients aged 3–48 years (28 children, 23 adults). Results: A significant difference in serum folate levels was discovered between adult HPA patients and PKU patients (p=0.004, Mann-Whitney U-test). A significant difference in plasma homocysteine concentrations within the normal levels (p=0.032, χ2-test) was detected between adult HPA and PKU patients. In the group of adults, we also found significant differences in serum holotranscobalamin concentrations regarding both concentration levels and the proportion of patients with concentrations within the normal levels (p=0.031, Mann-Whitney U-test; p=0.006, χ2-test). Conclusion: We have proven that adult patients with PKU and HPA are at risk of vitamin B12 nutritional deficiency. The most effective parameter for these adults is the monitoring of holotranscobalamin in the serum.

PO-0136 Increased Risk Of Vitamin B12 Nutritional Deficiency In Long-term Treated Patients With Phenylketonuria And Hyperfenylalaninemia

The aim of this study was to assess the prevalence of nutritional deficiency of vitamin B12 in long-term treated patients with phenylketonuria (PKU) and hyperfenylalaninemia (HPA), together with parameters of vitamin B12 and metabolic control. Methods In 51 patients aged 3–48 years (28 children, 23 adults) was examined levels of active vitamin B12 in serum, folate concentration in blood, plasma homocysteine and methylmalonic acid concentrations in urine. Results We found a statistically significant difference between the levels of folate in the blood among patients with PKU and HPA (p = 0.046, Mann Whitney U test). This difference was also statistically significant for adults with HPA and PKU (p = 0.004, Mann Whitney U test). There was a statistically significant difference in the proportion of normal homocysteine concentrations in plasma in the overall evaluation of both groups (p = 0.023, chi -square test). This difference was also statistically significant in adults with HPA and PKU (p = 0.032, chi -square test). In the group of adults we detected a statistically significant difference in the concentrations of active vitamin B12 in the blood as in the evaluation of the concentration and the proportion of patients with normal levels (p = 0.031, Mann Whitney U test, p = 0.006, chi -square test). Conclusions In the analysed group of patients we demonstrated that our patients are at risk of vitamin B12 nutritional deficiency and the risk increases with age.

1037 Determination of Prealbumin, Selenium, Zinc and Iron Concentration in Serum for Monitoring the Nutrition Status of Phenylketonuric and Hyperphenylalaninemic Patients

Background and Aims Phenylketonuria is an inherited disorder of metabolism of the amino acid phenylalanine caused by a deficit of the enzyme phenylalaninhydroxylase. It is treated with a low-protein diet containing a low content of phenylalanine to prevent mental affection of the patient. The objective of the present study was to assess the compliance of our phenylketonuric (PKU) and hyperphenylalaninemic (HPA) patients; to determine the concentration of serum pre-albumin and trace elements to discover the potential correlation between the amount of proteins in food and their metabolic control. Methods The prospective study contained altogether 174 patients, of which 113 were children, 60 with PKU and 53 with HPA and 61 were adults, 51 with PKU and 10 with HPA. Results We did not prove a statistically significant difference in the levels of serum pre-albumin, zinc and iron among the respective groups. We proved statistically significant difference in the level of serum selenium among PKU and HPA patients in adulthood (p=0.006, Mann-Whitney U test). Conclusion The therapeutic restrictive diet for PKU and HPA makes the patient liable to the risk of nutritional deficit.

Wilson's Disease: Monocentric Experiences Over a Period of 16 Years

BACKGROUND Wilsons disease (WD) is an autosomal recessive disorder of copper metabolism. The objective of this study is to present diagnostic pitfalls and long time follow-up data in Wilson disease. PATIENTS/METHODS We studied 21 WD patients and 14 heterozygote carriers aged 2-43 years, retrospectively. 18 WD patients presented liver disease, three had mixed neurological and hepatic involvement and 9 patients underwent orthotopic liver transplantation (OLT). RESULTS The median age at diagnosis of WD children without OLT was 10.16+/-3.8 (range, 5-16). All of females and younger age categories of patients prevailed in acute liver failure group. Serum ceruloplasmine levels were below 0.2 g/l in about (1/3) of WD carriers (X =0.27+/-0.09 g/l) and nearly (2/3) of children with WD (X = 0.21+/-0.13 g/l). A statistically significant difference (p<0.05) in the 24-h excretion of copper in urine was noticed between healthy controls, children with WD and WD heterozygote carriers. As diagnostic important proved the copper content of more than 250 microg/g hepatic dry weight. The Kayser-Fleischer?s ring was not observed in children. Ceruloplasmine, haemoglobin, ALT, ALP and plasma albumin were significantly different between fulminant and non-fulminant WD and could be used as indirect markers in evaluation of urgent OLT. CONCLUSION Detection of WD in children remains very difficult. The most important investigation is liver biopsy with the assessment of liver copper. Genetic analysis may help in doubtful cases.