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PubMed2003

[Type I Gaucher's disease--a rare genetic metabolic disease].

Morbus Gaucher is a rare disease. It occurs once in 40,000 to 65,000 persons in the whole world. This is the most frequent lysosome disease in the clinics. This is the first lysosome disease used in perinatal diagnostics and the first one where enzyme therapy was implemented. Case of gaucher disease morbus type I was found in girl of age 14 in Cantonal hospital "Dr. Irfan Ljubijankić" in Bihać. The clinical investigations were carried out at the same hospital, and samples necessary for the further detailed biochemical analysis were taken together with all other relevant data for this disease. In this case, taking into account rules of distribution of certain genes responsible for transfer of characteristics and processes, and following genealogical series, it could be concluded that parents of our patient are heterozygotes (healthy) and carriers of Gaucher gene, and that 1/4 of their children are dominant homozygotes (healthy), 2/4 are heterozygotes (healthy) and carriers of Gaucher gene, and 1/4 of children, together with the patient, are recessive homozygotes, and carriers of Gaucher gene with expression of the type I of this disease. For therapy of Gaucher disease there are in the market two enzyme. Aglucerosis obtained from human placenta and imiglucerasis obtained from cells of ovarian of hamster. The second preparation is cheaper and it is in wide use. There are no differences in the activity, as well as in creation of antibodies--the enzyme entered in use for the first time in 1989, and since 1991 is in wide use. In Bosnia and Herzegovina, therapy is not possible due to the financial restrictions.

Adolescent↗
PubMed2003

[Inherited metabolic diseases and pregnancy: consequences for mother and child].

The prevalence of individual hereditary metabolic diseases is low, but together they constitute an important group in which pregnancy is of growing interest because patients more often reach adulthood and consider progeny. Hereditary metabolic diseases of the woman, such as hyperhomocystinemia or urea cycle defect, can present during or directly after pregnancy for the first time with thrombosis or coma, respectively. Other hereditary metabolic diseases of the woman, such as glycogen storage disease type I or III, can progress during pregnancy and may result in renal insufficiency or cardiomyopathy. Maternal hereditary metabolic diseases, such as poorly controlled hyperhomocystinemia or phenylketonuria, can deleteriously affect the foetus. Hereditary metabolic diseases of the foetus may have implications for the foetus itself, e.g., lysosomal storage diseases of the foetus may cause hydrops foetalis, cardiomyopathy, or foetal demise. In addition, hereditary defects of long chain fatty acid oxidation of the foetus may result in severe haemolysis and elevated liver enzymes and low platelets, or acute fatty liver of pregnancy in the mother.

Female↗
PubMed1994

Metabolic disease and sudden, unexpected death in infancy.

The prevalence of metabolic disease in infants dying suddenly and unexpectedly is controversial. Most studies have centered on major pediatric institutes with appropriate facilities to study inherited metabolic disease. No studies have been reported from nonacademic centers. We have prospectively studied urine and blood organic and fatty acids from 58 consecutive infant deaths over a 1-year period in nonteaching hospital medical examiners' offices in the state of Illinois for evidence of metabolic disease. One infant was found to have medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, homozygous for the common A985G mutation. One had probable non-A985G MCAD deficiency based on the identification of cis-4-decenoic acid in blood and one had ethylmalonic-adipic aciduria. Thus, we found evidence that inherited metabolic defects are related to unexpected infant death in this population. These disorders are present in a significant minority of infants who probably would have been given the diagnosis of sudden infant death syndrome if they had not undergone metabolic evaluation. We recommend that all infants who have died suddenly and unexpectedly be regarded as high-risk candidates for metabolic disease and that all such deaths be appropriately investigated as part of the routine autopsy procedure.

Acyl-CoA Dehydrogenase↗
PubMed2005

[Serum creatine kinase activity in dogs and cats with metabolic diseases].

Elevated Creatine kinase-activitiy (CK) indicates disturbances of the muscle cell integrity. In addition to primary muscle disease, like trauma, inflammation or dystrophy, diseases of other organs can lead to secondary muscle involvement, which will be indicated by increased serum activities of the CK. The mechanisms of muscle cell disturbance are still unknown. An elevated protein catabolism in the muscle cell is suspected. In the present study we investigated, if dogs and cats with metabolic diseases have increased CK-activity in the serum. From 34 dogs and cats in a group with different metabolic diseases without metabolic acidosis 19% of the dogs and 50% of the cats had increased CK-activity in the serum. From 33 dogs and cats with different metabolic diseases connected with metabolic acidosis 86% of the dogs and 95% of the cats had simultaneously increased CK-activity in the serum. In comparison to healthy dogs and cats animals with metabolic diseases have significant and in cases of metabolic di-seases with metabolic acidosis cats have high significant elevation (dogs significant) of CK-activity in the serum. There was no significant correlation between the groups of patients. In conclusion we think that our results show that metabolic diseases often induce secondary myopathy, measured by CK-activity in the serum, but metabolic acidosis has no direct influence on elevated CK activity in dogs and cats.

Acidosis↗
PubMed1987

The effects of metabolic diseases on the cardiovascular system.

Many metabolic diseases result in pathological changes within the cardiovascular system, often with the most severe effects on the function of the heart and great vessels. Metabolic disorders affecting the heart include disorders of amino acid metabolism, storage diseases, neuromuscular diseases, diseases of metal and pigment metabolism, carnitine deficiency, and connective tissue disorders. Several inborn errors of metabolism may involve the myocardium due to the accumulation of abnormal metabolites in the myocardial cells. In addition, the heart valves and coronary vessels may be involved. If the predominant effect is in the myocardial cell, it will be manifested clinically as a cardiomyopathy. Some disorders, in particular oxalosis, may involve the conduction system as a result of the deposition of oxalate crystals and result in conduction disturbances such as in alkaptonuria, primary oxalosis, and homocystinuria. Myocardial involvement may result in cardiomyopathy of the three functional types: (1) congestive, as in Fabry's disease, (2) hypertrophic, as in glycogen storage disease, type II, or (3) restrictive, as in Gaucher's disease. In the storage disease severe valvular as well as myocardial involvement occur predominantly in the glycogen storage diseases, types II-IV, mucolipidoses, sphingolipidoses, and neuronal ceroid lipofuscinosis. There are a variety of neuromuscular disorders that may be associated with cardiomyopathy, including the muscular dystrophies, Friedreich's ataxia, and Kugelberg-Welander syndrome. The pathological features of these conditions are not specific, but result usually in a congestive form of cardiomyopathy. Patients with metal and pigment metabolic disorders include iron storage disease, either hemochromatosis or transfusional hemosiderosis, Menkes' kinky hair syndrome, and Dubin-Johnson syndrome. Either a restrictive or a congestive form of cardiomyopathy may occur. The systemic form of carnitine deficiency is an autosomal recessive disorder and may present as a cardiomyopathy with congestive heart failure and lipid accumulation in the myocardial cells. Connective tissue disorders are generalized diseases that may involve the heart and valvular tissue, but also the blood vessels. These include Marfan's syndrome, Ehlers-Danlos syndrome, osteogenesis imperfecta, and pseudo-xanthoma elasticum.

Amino Acid Metabolism, Inborn Errors↗
PubMed2001

Comparison of outcome after pediatric liver transplantation for metabolic diseases and biliary atresia.

UNLABELLED: Metabolic diseases (MD) are the second largest indication group for orthotopic liver transplantation (OLTx) in children after biliary atresia (BA). A better outcome after transplantation can be expected because of a better pretransplant condition and the absence of previous abdominal surgery. To prove this statement, patient survival, graft survival, and morbidity were compared between a group of 24 for MD and 52 for BA consecutively transplanted children. The actuarial one- and five-year patient survival rates for MD were 96% and 84%, and for BA 84% and 70%, respectively (p logrank test = 0.17). Three MD children (13%) and 15 BA children (29%) died. The actuarial one- and five-year graft survival rates for MD were 75% and 58%, and for BA 75% and 64%, respectively (p logrank test = 0.76). Seven MD children (29%) and 11 BA children (21%) were retransplanted. Postoperative bleeding and gastrointestinal complications occurred less frequent (4% vs. 18% and 4% vs. 14%, respectively), whereas biliary complications, viral infections, and acute rejection occurred more frequently (38% vs. 21%, 29% vs. 15%, and 50% vs. 37%, respectively) in MD children. The difference in the incidence of the various postoperative complications between both groups was not statistically significant. The mean ICU and ventilator stay was 7.5 and four days, respectively, in MD children and 16 and 10 days, respectively, in BA children (p = ns). The mean infection, complication, intervention, and retransplantation rate was equal in both groups. CONCLUSION: Mortality and morbidity after pediatric liver transplantation for MD and BA are not different despite the better starting point for children with MD.

Biliary Atresia↗