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Biomedical subjects

K Ullrich

Publications and source records attributed to K Ullrich.

At least 109 records · Page 6Linked to original sources
PubMed1991

Recurrent nonsense mutation in exon 7 of the phenylalanine hydroxylase gene.

A new mutation (CGA to TGA) in codon 261 of exon 7 of the phenylalanine hydroxylase gene transforms Arg261 to a stop codon in two unrelated patients of German and Turkish origin. The different ethnic backgrounds and the different polymorphic characteristics of the two mutant alleles suggest an independent origin of the mutation. This is the second defect detected in codon 261 of the phenylalanine hydroxylase gene, a codon that thus appears to be a mutation hot spot.

Arginine↗
PubMed1991

Disturbed myelination in patients with treated hyperphenylalaninaemia: evaluation with magnetic resonance imaging.

Cranial magnetic resonance imaging (MRI) was performed in nine treated adolescents with hyperphenylalaninaemia (HPA) in order to analyse possible changes in myelination. Three patients suffered from type I HPA, four from type II and two from type III (persistent HPA). Images were obtained with a 1.5 T unit using spin-echo-sequences. In all patients with type I or type II HPA, abnormal findings in the cerebral white matter were demonstrated including band-like and/or confluent patchy areas of high signal intensity predominantly in the peritrigonal region, with anterior and posterior periventricular extension and/or involvement of the subcortical white matter. The extent of MRI changes did not correlate with the initiation, duration or quality of dietary treatment. There was also no consistent relationship between electrophysiological changes and white matter abnormalities on MRI. Our findings suggest a disturbance of myelination in patients with treated HPA. These results correspond well with earlier neuropathological and biochemical studies in untreated patients.

Adolescent↗
PubMed1991

Inadequate iron availability as a possible cause of low serum carnitine concentrations in patients with phenylketonuria.

A previous observation of decreased serum carnitine concentrations in phenylketonuria (PKU) was investigated in 169 patients either on a strict diet (n = 107; median: 8.1 years) or off diet (n = 62; median: 15.0 years). Fifty-seven metabolically healthy children (median: 8.5 years) served as controls. PKU patients on a strict diet and older than 2 years had significantly lower serum carnitine concentrations (19.4 +/- 5.4 mumol/l) than those off diet (29.6 +/- 6.7 mumol/l). PKU patients on diet also had significantly lower concentrations of haemoglobin and serum ferritin than those off diet. A linear correlation existed between total serum carnitine and ferritin concentrations up to 40 micrograms/l (r = 0.52; P less than 0.01). As iron is an essential cofactor of carnitine synthesis we conclude that reduced endogenous carnitine synthesis due to an inadequate availability of iron may be a major cause of low serum carnitine concentrations. The low carnitine content of the strict and highly protein-reduced diet additionally contributes to a decrease in the serum carnitine concentration. Our results show that a further optimization of the PKU diet increasing either iron availability or carnitine intake should be considered.

Adolescent↗
PubMed1991

Functional and morphological deficits in late-treated patients with homocystinuria: a clinical, electrophysiologic and MRI study.

Seven late-treated patients between the ages of 10-30 years suffering from homocystinuria were examined clinically and electrophysiologically; four had MRI. The clinical examination showed extrapyramidal features and slight impairment of proprioception. Electrophysiological evaluation revealed normal results in the acoustic and central motor system; a minor, possibly vitamin B6 related, sensory neuropathy was detected by peripheral conduction studies. MR imaging showed small focal areas of gliosis in the white matter, generalized cortical atrophy in two patients, but only one small cortical infarct. No changes in the basal ganglia were detected. These results support the view that neurological signs and symptoms in patients suffering from homocystinuria are related to morphological findings, as well as pharmacological effects.

Adolescent↗
PubMed1990

The long-term outcome of patients with glycogen storage diseases.

In this retrospective study from five centres, 139 patients over 10 years of age with glycogen storage disease types I, III, VI and IX are described. Almost half of the patients with glycogen storage disease type Ia had retarded growth and most had hyperlipidaemia. One-third of the patients had adenomas, although none of these showed malignant transformations. With increasing age the growth, liver size and hyperlipidaemia of patients with glycogen storage disease type III improve. However, there was a high incidence of myopathy and cardiomyopathy. Patients with glycogen storage disease types VI and IX had a normal growth pattern after childhood. Hepatomegaly and hypercholesterolaemia, however, were still present in half of the patients.

Child↗
PubMed1990

Six-year follow up of phenylalanine intakes and plasma phenylalanine concentrations.

The daily Phe intakes of normally growing 1- to 6-year-old treated PKU patients were evaluated. The children received protein in amounts that varied from 2.26 +/- 0.47 g/kg body weight per day (mean +/- SD) at the age of 6 to 1.81 +/- 0.35 at the age of 72 months. Mean Phe intakes declining from 34 +/- 7 at the age of 6 months to 15 +/- 5 mg/kg body weight per day at the age of 72 months were required to maintain mean median plasma Phe levels around 6.0 mg/dl.

Aging↗
PubMed1990

Electrolytes, amino acids and proteins in lumbar CSF during the treatment of acute leukemia in childhood.

We performed analyses of electrolytes, amino acids, albumin, alpha 2-macroglobulin, gamma-globulin and LDH in the lumbar cerebrospinal fluid of children undergoing treatment for acute lymphoblastic leukemia, non-Hodgkin-lymphoma or acute myeloid leukemia. At the time of diagnosis signs of a disturbance of the blood-brain barrier were found in some patients. During induction treatment with L-asparaginase a rise of glutamic acid and a decrease of glutamine occurred. This finding correlated with slowing of the EEG. Treatment with vincristine was associated with a slight drop of sodium and chloride concentration in serum, but not in the cerebrospinal fluid. Central nervous system prophylaxis with cranial irradiation, and to a lesser degree with intravenous medium-dose methotrexate, gave rise to a further deterioration of the blood-brain barrier function as indicated by an increase in albumin, alpha 2-macroglobulin and LDH levels. During radiotherapy the concentration of several amino acids rose, probably due to a disturbance of active carrier mechanisms. Patients with elevated albumin at the end of radiotherapy more often suffered an early leukemia relapse while still on treatment. No other clinical or electroencephalographic correlations of altered barrier function could be found.

Amino Acids↗
PubMed1990

[Focal peliosis of the adult liver in combination with glycogenosis type I (v.Gierke). A case report and review of the recent literature].

Peliosis hepatis is a condition characterized by blood-filled lesions in the liver that can be localized or diffuse in distribution. The predisposing factors for this condition include treatment with anabolic steroids, chemotherapeutic and oral contraceptive agents, catabolic metabolic conditions (e.g., hypoglycemia) and certain immunological disorders. This disease probably represents a non-specific immunological response to a variety of noxious agents and has been successfully induced in experimental animals. The increased tendency towards liver rupture following blunt trauma and resuscitation procedures may have important medicolegal consequences. We present a case of peliosis hepatis in a patient with type I glycogen storage disease (von Gierke).

Adult↗
PubMed1989

Osteomesopycnosis. A new case.

A 10-year old, mentally and physically normally developed girl complained of back pain following an accident. Radiological findings revealed an inhomogeneous, coarse osteosclerosis along the endplates and posterior parts of the ovoid shaped vertebral bodies, in the proximal and distal femora-, proximal humeri and tibia epiphyses, and along the lateral aspects of the femoral necks. The pelvis presented a mottled appearance of the trabecular pattern at the symphysis pubis and the lateral parts of ischii and sclerosis in the acetabular region. The only laboratory abnormality was a high serum parathormone level. The family history revealed an autosomal dominant inheritance. The name proposed by Maroteaux for this skeletal disorder is osteomesopycnosis, as the lesions were localized to the spine, pelvis and sometimes proximal femur. The skull, ribs, long bones, hands and feet were not involved in the reported 12 cases. Radiographs of this patient showed in addition changes in the hand. This disease must be distinguished from atypical axial osteomalacia.

Child↗
PubMed1989

[Accidents in children in relation to the accident site, age and sex].

An analysis was conducted of 1,064 child accident in-patients in the county of Suhl in 1983 and of 884 child accident out-patients in the district of Schmalkalden from July 14th, 1984 to July 13th 1985. The children were 1 to 15 years old. The analysis of the sites of the accidents was carried out with regard to age and sex. Conclusions about accident prevention were drawn from the analysis.

Accident Prevention↗
PubMed1989

[Aspartylglucosaminuria. Clinical description of 2 German patients].

Aspartylglucosaminuria was diagnosed for the first time in two german patients. First sign of the disease was retardation of speech at the age of two years. Later on, motor and mental retardation as well as a coarse face developed. Radiological examination revealed progressive changes of the thoracic and lumbar spine with wedge-shaped vertebral bodies as well as stubby metacarpalia and cystic changes of carpalia. Coarse face developed earlier than in the finnish patients described earlier. Thin cortex of long bones and cortical thickness of metacarpalia was not found in our patients.

Abnormalities, Multiple↗
PubMed1989

[Muscular burden in current work activities exemplified by cash register work sites].

21 cash register operators (aged 18 to 49 years) have been studied in an industrial study. The investigation included the measurement of heart rate, bioelectrical muscle activity of the right and left M. biceps brachii and M. deltoideus and muscular endurance at 50% MVC. There were significant relationships between the movement of the left arm and the heart rate and the load of articles and the heart rate. The results in bioelectrical activity showed that there were a muscular load in the right and left muscles and findings of muscular fatigue in frequency distribution and in muscular endurance.

Adolescent↗
PubMed1988

Phenylketonuria: distribution of DNA diagnostic patterns in German families.

The distribution of DNA haplotype constellations within the phenylalanine hydroxylase (PAH) gene was investigated in 44 German families affected with phenylketonuria (PKU). The haplotype frequencies differed significantly from those observed in a Danish population. Furthermore, ten haplotypes were identified in addition to the 12 previously described. In one of ten PKU alleles linked to haplotype 3, the G to A transition at the 5' splice donor site of intron 12 could not be confirmed with the use of synthetic DNA probes. According to these data, which are still limited, carrier testing and prenatal diagnosis should be possible in 70% of individuals at risk in the German population.

Alleles↗
PubMed1988

Glycogen storage disease: recommendations for treatment.

A workshop was held on "Aspects of treatment of patients with glycogen storage disease" within the framework of the Concerted Action "Inborn errors of metabolism" of the European Communities. Consensus was reached on the main issues of treatment of patients with deficiency of glucose-6-phosphatase, glucose-6-phosphate translocase, debranching enzyme, liver phosphorylase and phosphorylase-b-kinase. The resulting recommendations are reported.

Adolescent↗
PubMed1988

Basal ganglion calcification in hyperphenylalaninemia due to deficiency of dihydropteridine reductase.

The disease course and therapy of a nine-and-a-half-year-old boy with hyperphenylalaninemia due to a dihydropteridine reductase deficiency are reported. Clinically, there is a marked mental retardation and complex basal ganglion symptoms. The cranial computed tomographic investigation shows bilateral, symmetrical, comma-shaped calcifications in the globus pallidus and the putamen of the lentiform nucleus. The cause of these basal ganglion calcifications remains unclear. Lowering of serum and CSF folic acid levels could not be detected, in contrast to cases with the same enzyme defect described previously.

Basal Ganglia Diseases↗
PubMed1988

[Skeletal changes in 2 German children with aspartylglycosaminuria].

Two sibs showed delayed speech development, motor retardation and coarsening of their features during their second year of life. Radiological examination of the skeleton showed changes of dysostosis multiplex. Both children showed storage vacuoles in peripheral lymphocytes and a typical oligosaccharide-banded pattern on urinary chromatography. The diagnosis of aspartylglycosaminuria was confirmed by the demonstration of reduced activity of the enzyme aspartylglucosaminidase in leukocytes and in cultured fibroblasts. Treatment of this autosomal recessive inherited glycoprotein storage disease is not possible. Early recognition is important for genetic counselling of the family. This paper describes the first recognised cases in German literature.

Amidohydrolases↗