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G Seidlitz

Publications and source records attributed to G Seidlitz.

At least 19 recordsLinked to original sources
PubMed1992

Molecular analysis of patients with Hunter syndrome: implication of a region prone to structural alterations within the IDS gene.

Hunter syndrome or mucopolysaccharidoses type II (MPS-II), is a lysosomal storage disorder caused by a deficiency in the activity of the enzyme iduronate-2-sulphatase (IDS). We have investigated the occurrence of rearrangements and deletions of the IDS gene in a Southern analysis of 46 unrelated MPS-II patients of different ethnic origins using a cDNA clone containing the entire IDS gene as a probe. Structural alterations of the IDS gene were found in DNA from 9 patients two of whom showed large deletions including all coding sequences of the gene. The distal and proximal breakpoint of these deletions were determined by hybridization of markers flanking the IDS gene. Seven of the observed alterations constitute major rearrangements of the gene. Interestingly, six of these rearrangements showed similar or identical patterns by Southern analysis suggestive for a region prone to structural alterations within the IDS gene. We also demonstrate the potential use of the IDS probe for carrier detection in families with a rearranged IDS gene. A contiguous gene deletion syndrome characterized by Hunter syndrome and epilepsy is also discussed.

Blotting, Southern↗
PubMed1992

[Mucopolysaccharidoses. Genetics, clinical pathology, therapeutic regimes].

In recent years, several clinical and biochemical studies have been published contributing to better understanding of mucopolysaccharide storage diseases. Our purpose, therefore, is, to give an updated survey of this group of lysosomal diseases for diagnostic orientation to the pathologist. The present classification of mucopolysaccharidoses is based on a mixture of clinical symptoms, demonstration of enzyme defects, analysis of urinary excretion of glycosaminoglycans (mucopolysaccharides) and historical eponyms. A broad heterogeneity has been revealed: identical enzyme defects may lead to severe mental and physical deterioration and death during childhood or to mild forms with normal adult height, intelligence, and life expectancy. Conversely, identical phenotypes may result from mutations of different genes. Various types of mucopolysaccharidoses are mostly characterized by quantitative differences of main symptoms (coarse facial features, various skeletal abnormalities, hepatosplenomegaly, corneal clouding, mental retardation, and cardiac failure). Morphologically, storage material can be observed practically in all tissues by light and/or electron microscopy. Until recently, no more than palliative treatment could be offered. In the last decade, bone marrow transplantation has become available and may have beneficial effects in selected cases. The genes of several lysosomal enzymes have been identified, and comprehensive studies to introduce the gene into defective cells are currently undertaken. However, substantial efforts are still necessary until gene transfer will become available for patients with mucopolysaccharidoses.

Brain↗
PubMed1992

[Maternal phenylketonuria. Problems in detecting and risk educating identified females].

Maternal PKU is an embryo-fetopathy caused by elevated plasmaphenylalanine levels in pregnant women with hyperphenylalaninemia and phenylketonuira. Leading symptoms are microcephaly, mental retardatioin and congenital malformations, especially congenital heart disease. Maternal PKU becomes more important since early treated and normally developed girls with PKU are reaching their reproductive age in increasing numbers. There is a lack of adequate knowledge about the dangers of maternal PKU in at-risk women. Only 43% of these women in the Federal Republic of Germany are located by now and can be informed and instructed. Ways and conditions of tracking are described.

Adolescent↗
PubMed1990

[Pathomorphology of mucopolysaccharidoses].

Mucopolysaccharidoses are autosomal recessive or X-linked hereditary lysosomal storage diseases occurring to one in 10,000 to 16,000 births. The definitive diagnosis is based on the biochemical verification of the enzyme defect in cultured fibroblasts of amniotic fluid cells, in amniotic fluid, in chorionic biopsies and by determination of the urinary excretion of glycosaminoglycans. Morphological studies are of utmost importance both for genetic counselling and enlightenment of the pathogenesis. In recent years, numerous reports appeared dealing with morphological changes in different types of mucopolysaccharidoses. Based on own studies in pre- and postnatal cases, the present paper gives an update review on light and electron microscopic peculiarities of the different types and subtypes of mucopolysaccharidoses according to the classification of MCKUSICK and NEUFELD (1983). Lysosomal storage is found in practically all organs. However, there are quantitative and qualitative differences which are responsible for variations in clinical symptomatology. The purpose of this paper is to describe these differences with particular emphasis on changes in various tissues, on the pathogenetic mechanism of the storage as well as on pre- and postnatal morphological diagnostics.

Brain↗
PubMed1990

[Diagnosis of lysosomal storage diseases. Pathomorphologic and biochemical possibilities].

Optical light and electron microscopy were used in studies into two cases of infantile GM2-gangliosidosis. The results are reported in this paper. The correlation has been evident between histological and ultrastructural findings. Reliable delimitation between two different variants of infantile GM2-gangliosidosis was achieved through biochemical investigation of postmortally cultured skin fibroblasts. A classical form with isolated hexosaminidase-A defect (Tay-Sachs disease) was distinguished from a second variant with complete defect of both isoenzymes of hexosaminidase (Sandhoff's disease). Biochemical investigation of postmortally cultured fibroblasts today has become indispensable to enlargement of autopsy findings from other storage diseases, as well.

Brain↗
PubMed1990

Tryptophan metabolic studies in patients with presenile cataracts.

In 43 patients with presenile cataracts an oral tryptophan loading test with 5 g L-tryptophan was performed and the 24-hour urinary excretion of kynurenine and xanthurenic acid was determined. 5 cases showed pathological deviations and an excretion pattern of tryptophan metabolites via kynurenine, similar as in vitamin B6-dependent xanthurenic aciduria.

Adolescent↗
PubMed1989

Prenatal diagnosis of phenylketonuria by haplotype analysis.

Prenatal diagnosis of classic phenylketonuria (PKU) was performed after chorionic villus sampling by means of linked restriction fragment length polymorphisms (RFLPs) using the cDNA probe ph PAH 247 (Kwok et al. (1985) Biochemistry, 24, 556-561). We report in this paper a PKU family who were only informative for RFLP analysis by a combination of two RFLPs on the basis of haplotype determination of the normal and mutant phenylalanine hydroxylase (PAH) alleles. The DNA analysis detected a PKU fetus homozygous for mutant PAH alleles and the mother opted for termination in the 12th week of gestation.

Chorionic Villi Sampling↗
PubMed1989

[A staged plan for laboratory diagnosis of hereditary metabolic diseases].

When clinical evidence provides grounds for suspecting inborn errors of metabolism it is urgent to perform the necessary, relevant, specific laboratory investigations in good time and with a view to quality. Normally, the realization depends on individual initiatives and the use of laboratories mainly designed for pediatrics and human genetics. Consequently the results are equally a matter of chance. Nothing in this situation can be changed in principle by using the catalogue of services of the Society for Human Genetics of the GDR. Central administrative provisions are necessary to improve the present unsatisfactory situation. Proposals for regulations, division of responsibility and a graduated programme of parameters are discussed here with a view to establishing uniform procedures.

Child↗
PubMed1988

Haplotype analysis of classical and mild phenotype of phenylketonuria in the German Democratic Republic.

The restriction fragment length polymorphism (RFLP)-haplotypes have been analysed in 16 families from the northern part of the GDR at risk for classical and mild phenylketonuria (PKU). Ten different RFLP haplotypes associated with the normal and mutant phenylalanine hydroxylase (PAH) alleles were identified. Of the 32 mutant alleles analysed, 29 (90.6%) were associated with haplotypes 1, 2, 3 and 4; 53.1% of the mutant alleles were linked with haplotype 2. The distribution of RFLP haplotypes in 16 patients of clinical different PKU phenotypes (classical and mild) is reported.

Alleles↗
PubMed1988

[Non-immunologic fetal ascites--case report].

In this paper 4 cases with fetal nonimmunologic ascites are reported. Etiology from ascites and outcome of pregnancies are discussed. To elucidate the cause of ascites may be important for further pregnancies.

Abnormalities, Multiple↗
PubMed1988

[Diagnostic chorionic biopsies in the first trimester. Report of experiences over a 2 year period].

We report about 58 ultrasonographically guided transcervical chorionic villus biopsies from January 1985 to November 1987. Maternal age greater than 35 years (n = 28), followed by trisomy 21 or 18 (n = 10) were the mean indications. Biochemically evaluation of storage diseases (n = 6) and genomically DNA-analysis because of phenylketonuria (n = 2) were combined in each case with cytogenetic diagnosis. In the other cases certain indications were the reasons for biopsy. In 52 of 58 cases we were successful in biopsies and diagnoses. In the other 6 biopsy specimen we didn't found chorionic villi. 3 abortions we observed up to day 3 after operation (n = 3) and after 6 weeks (n = 1). Pathological findings were 1 trisomy 16, 1,47,XYY-karyotype and 1 embryo with phenylketonuria. Another reason for termination of pregnancy was male karyotype in a Morbus Duchenne-risk and 1 risk for Rett-syndrome. Meanwhile 30 healthy babies were born.

Adult↗