Biomedical subjects
Publications and source records attributed to D Leupold.
Two CT scans have been performed on a child with a biochemically confirmed 3-HMG-CoA-lyase deficiency. Macrocephalus, widespread hypodensity of the white matter with cystic alterations and progressive dilatation of the ventricles were found. The clinical features and CT findings are surprisingly similar to findings in patients with spongy degeneration (Canavan).
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A 5 1/2-year-old boy is reported with congenital lipase deficiency and the presence of colipase. He presented with greasy-oily stools since infancy, but growth and development have been normal. No other cause for exocrine pancreatic insufficiency could be found. Intraluminal (jejunal) fat digestion was defective, but some hydrolytic products of dietary long-chain triglyceride were present. The di- and monoglycerides were probably generated by pregastric lipases, although this was not measured directly. Amylase activity was depressed to some extent, a finding which could not be explained. Our studies do not clarify the issue of whether or not the absence of pancreatic lipase is explained as an inherited defect of lipase synthesis, or if it was acquired in utero or in the early postnatal period.
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The intensity-dependent transmission of primary leaves of Triticum aestivum seedlings at lambda = 694 nm was measured with single pulses of a Q-switch ruby laser. At photon flux densities above 2 x 10(17) cm-2s-1 a decrease of transmission was observed. The result is interpreted as a two-step absorption of cooperative units of 10(5)-10(6) chlorophyll molecules.
A case of methylmalonic acidemia with intermittend homocystinuria is described. Special attention is given to the early symptoms of this inborn error of metabolism, like lethargy, muscular hypotony, poor feeding, ketoacidosis, and recurrent vomiting. Furthermore, the necessary diagnostic steps, the pertinent differential diagnosis (septicemia, duodenal stenosis, other inborn errors of metabolism), and the possible treatment are discussed.
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Congenital methylmalonic aciduria (MMA) is a metabolic disorder inherited by an autosomal recessive trait. The metabolic block is located in the catabolic pathway of propionyl-CoA to succinyl-CoA. Biochemically, four enzymatic defects have been recognized, i.e.: 1. Methylmalonyl-CoA racemase. 2. Methylmalonyl-CoA mutase apoenzyme. 3. Synthesis of desoxyadenosyl-cobalamine. 4. Disturbance at an earlier level of cobalamine metabolism which causes defective synthesis of both vitamin B12-coenzymes. These four enzymatic defects express themselves in three ways: non-vitamin B12-dependent MMA (defects 1 and 2); vitamin B12-dependent MMA (defect 3); MMA associated with homocystinuria (defect 4). The various forms of MMA cannot be distinguished clinically from one another. The disorder manifests itself during the first few days to weeks of life. Principal symptoms and signs are: anorexia, vomiting, muscular hypotonia and metabolic acidosis. The diagnosis is established by determination of methylmalonic acid in plasma, cerebrospinal fluid and urine, as well as by assay of enzyme activities in leukocytes, liver tissue or cultured fibroblasts (from biopsied skin). A prenatal diagnosis is feasible by the examination of cultured amnion cells, amniotic fluid and maternal urine. Therapy of non vitamin B12-dependent MMA calls for reduction of protein intake, particularly that of precursors of methylmalonic acid, such as methionine, threonine, isoleucine and valine. The treatment of vitamin B12-dependent forms is accomplished by i.m. injection of high doses of vitamin B12. No definite statement can be made as yet with regard to long-term prognosis and normalcy of mental development in treated children.
An electrophoretically HbA-like hemoglobin component is produced in increasing amounts during storage in hemolysate preparations from macerated tissue (liver, kidney, spleen) of fetuses. Within twenty four hours after hemolysate preparation the "fast moving" fraction increases up to 40 per cent of total hemoglobin, while the concentration of HbA remains constant (5 - 7%) in hemolysates obtained from peripheral blood of the same donor individuals. By structural studies (fingerprint and aminoacid analysis) the HbA-like component was identified as an artefact of HbF, characterized by the absence of the C-terminal arginine of the alpha chains. From experimental data it is concluded, that the break down product results from a digestion of HbF by carboxypeptidase B, the enzyme being released from the macerated tissues. Analogous to a modification of HbA, i.e. Hb Koelliker (alpha2 minus 141 Arg beta2), the structure of the degradation product of HbF is alpha2 minus 141 Arg gamma2 (HbF Koelliker).
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The therapeutic effect of different diets varying in long chain and medium chain triglycerides, carbohydrate, and protein was tested in two siblings with type I hyperlipoproteinemia. Despite administration of an extremely fat reduced diet ( less than 5 g daily), a normalization of plasma TG could not be obtained because-as a consequence of its high carbohydrate and/or its MCT content-it resulted in a considerable increase in pre-beta-lipoproteins. As life long dietary therapy has to be maintained, the risks of a normal therapy has to be maintained, the risks of a normal fat containing diet (mainly bouts of pancreatitis) and those of a carbohydrate and MCT rich diet (premature atherosclerosis) are to be carefully considered. On the basis of our data we therefore suggest the following dietary regimen: 1. Reduced intake of long chain triglycerides (less than 30 gms per day), but with sufficient amounts of essential fatty acids (4-6 gms linoleate daily). 2. The carbohydrates should not exceed 50% of total calories and ought to consist mainly of starch. 3. The caloric deficit thus generated should be balanced by a high protein intake. This is faciliated by applying a specially protein-enriched food. 4. Medium chanin triglycerides may be necessary when adherence to the protein-rich diet turns out to be bad.
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Three cases of congenital selective malabsorption of vitamin B12 (Imerslund-Grasbeck syndrome) are presented. Pathophysiological aspected and clinical symptoms of this disease are discussed together with other megaloblastic anaemias in childhood caused by vitamin B12 deficiency.
An infant is described with acrodermatitis enteropathica, who initially presented with severe and intractable watery diarrhea. Diagnosis was established at the age of eleven weeks. Serum-zinc concentrations were extremely low and urinary zinc excretion was diminished. Eleven days after oral zinc supplement (100 mg elemental zinc per day), the skin lesions had healed. The high therapeutic doses of zinc required for healing are suggestive that zinc malabsorption is an important pathogenetical factor of this disease.
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