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Inborn errors of metabolism are inherited defects in human metabolism. Many different metabolic diseases are known and, even though individually rare, collectively they are common and may appear in any pediatric department from time to time. To improve the prognosis for metabolic diseases, early recognition is necessary. Many infants with metabolic diseases can be diagnosed with routine biochemical tests and metabolic screening of urine. For some metabolic diseases, an early diagnosis will lead to specific treatment and improved prognosis, for others to genetic counseling and prenatal diagnosis. To achieve this it is important to think metabolic and screen for metabolic diseases when examining for sepsis. The article reviews the principles of early diagnosis and treatment of metabolic diseases in the first year of life.
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The prevalence of metabolic diseases is taking on epidemic proportions and poses a serious threat to human health. Current treatment options have proven insufficient to cope with obesity and diabetes because they rarely restore normal metabolism and thus leave patients exposed to life-threatening complications. Successful management of these diseases depends on novel, improved therapeutic strategies targeting early intervention in disease progression. Discovery of novel metabolic disease targets has been hampered by the complexity of contributing environmental and genetic factors, as well as the need for potent but safe treatments suitable for chronic diseases. Genomic approaches are excellent tools to manage genetic complexity and have been applied successfully to identify candidate target genes that will lead to the development of novel therapies for metabolic diseases.
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Ten patients with inflammatory disease (rheumatoid arthritis, ankylosing spondylitis, Reiter's disease) or metabolic disease (gout, pseudogout, tendinous xanthomatosis) affecting the Achilles tendons are presented and discussed. Radiological lateral views of heel were obtained with xeroradiographic techniques, which permitted the recording on the same image of details of both bone and soft tissue and the evaluation and quantification of the changes in the Achilles tendons. Xeroradiography seems to be a very suitable radiological technique for routine use in the evaluation and follow up of rheumatic diseases of the foot.
Already in the preface of his book "Alimentary and Metabolic Diseases" Max Bürger writes: "I see a difficulty in the definition in the field of metabolic diseases. Since all life processes are finally based on a change of the substances, the accentuation of individual diseases as metabolic diseases is more or less arbitrary." The diabetes mellitus belongs to the classical metabolic diseases. But here only the symptoms are taken into consideration which phenotypically are standing in the foreground. The further clarification of the etiopathogenesis shows that the diabetes mellitus has heterogeneous causes and an existing insulin deficiency is etiologically to be classified as a primary immunological or endocrinological disease and thus one should speak of a secondary metabolic disease, while in normal insulin secretion it should be regarded as a primary metabolic disease.
8 mice were given L-acetidin-2-carboxylic acid orally over a period of 5 weeks. Another 8 mice served as control animals. Finally, the mice were sacrificed, their hair samples were hydrolized and applied to thin layer chromatography which revealed the incorporation of L-acetidin-2-carboxylic acid into mouse hair expressed by an additional spot. This experimental amino acid metabolic disorder served as a model for the application of infrared spectroscopy for screening hair in order to check metabolic disorders. As the multiinternal reflection-infrared spectra showed significant differences we suggest that infrared spectroscopy can be used as a noninvasive screening technique.
Multiple gene mutation inducing common metabolic diseases(diabetes mellitus and hyperlipidemia) and single gene mutation inducing congenital metabolic diseases or inherited endocrine disease are the main targets of DNA diagnosis. We review our current understanding of DNA diagnosis of representative inherited endocrine and metabolic diseases.
Inborn metabolic errors, which are not common, may have significant implications for patients. Those patients with such errors who have acute life-threatening symptoms must be treated immediately, and specimens for analysis should be obtained and saved for later analysis during the critical stage. Many infants and children seen with acute symptoms are the ones most likely to have treatable diseases. At a more leisurely pace, other inborn errors can be diagnosed to provide appropriate counseling and prognosis.
Inborn metabolic errors, while not common, may have significant implications for patients. Those patients with such errors who have acute life-threatening symptoms must be treated immediately, and specimens for analysis should best be obtained during the critical stage. Many infants and children seen with acute symptoms are the ones most likely to have treatable diseases. At a more leisurely pace, other inborn errors can be diagnosed in order to provide appropriate counseling and prognosis.
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The authors divide neonatal metabolic diseases into two major groups: intoxication and energy deficiency. The main signs which allow for the suspicion of the diagnosis are indicated for each group. The complementary examinations to be carried out by the Clinical Pathology Service of the Central Hospital and those which must be carried out by the metabolic diseases Reference Centre are reviewed. Based on the clinical framework and on the examination results, the authors establish five syndromatic groups to orientate diagnosis. The authors conclude by presenting differential diagnosis tables based on the original systematic classification by Jean-Marie Saudubray, with up-dated modifications from their own experience.
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