Hyperphenylalaninemia in the Czech Republic: genotype-phenotype correlations and in silico analysis of novel missense mutations.

Background: Hyperphenylalaninemia (HPA) is one of the most common inherited metabolic disorders caused by deficiency of the enzyme phenylalanine hydroxylase (PAH). HPA is associated with mutations in the PAH gene, which leads to reduced protein stability and/or impaired catalytic function. Currently, almost 700 different disease-causing mutations have been described.

Identification of CYP21A2 mutant alleles in Czech patients with 21-hydroxylase deficiency.

Congenital adrenal hyperplasia (CAH) is comprised of a group of autosomal recessive disorders caused by an enzymatic deficiency which impairs the biosynthesis of cortisol and, in most of the severe cases, also the biosynthesis of aldosterone. Approximately 90-95% of all the CAH cases are due to mutations in the steroid 21-hydroxylase gene (CYP21A2). In this study, the molecular genetic analysis of CYP21A2 was performed in 267 Czech probands suspected of 21-hydroxylase deficiency (21OHD).

Wilson's disease: monocentric experiences over a period of 10 years [corrected].

Background: Wilson's 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.

[Introduction of DNA microarray in molecular diagnostics of Wilson disease].

Background: Wilson disease (WD) is a serious autosomal recessive disorder caused by mutations in ATP7B-gene which encodes a copper-specific ATPase. WD patients suffer from impaired biliary excretion of copper from organism and its' accumulation in body organs. Molecular diagnostics of WD is an important part of correct diagnosis statement.

Haemolytic anaemia and acute liver failure--the initial manifestations of Wilson's disease.

We describe a case of a 16-year-old girl with Wilson disease, which was initially presented as Coombs-negative haemolytic anaemia and acute liver failure. The diagnosis was based on the findings of low ceruloplasmin serum level and high copper levels both in serum and 24-hour urinary excretion. The patient underwent orthotopic liver transplantation.