By Joe T. R. Clarke
This simple scientific instruction manual presents a transparent and concise assessment of ways to acknowledge and diagnose inherited metabolic ailments. The reader is led throughout the diagnostic approach from the identity of these gains of an ailment suggesting that it would be metabolic in the course of the number of applicable laboratory research to a last analysis. the hot variation offers extra in-depth insurance on mitochondrial disorder and congenital issues of glycosylation. The chapters on neurological syndrome and infant screening are vastly extended, in addition to these on laboratory research and therapy.
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Extra resources for A Clinical Guide to Inherited Metabolic Diseases (3rd Edition)
However, this phenomenon is very rare. Glucose-6-phosphatase deficiency GSD type I Hyperammonemic encephalopathy Hyperammonemic encephalopathy Spinocerebellar degeneration Homocitrullinemia Orotic aciduria Malabsorption of vitamin E Massive hepatomegaly; hypoglycemia; failure to thrive Severe metabolic acidosis; hypoglycemia Acute encephalopathy; metabolic acidosis Addisonian crisis; virilization of females Main clinical findings Androgen accumulation and deficiencies of aldosterone and cortisol Lactic acidosis; hyperuricemia; hypertriglyceridemia Lactic acidosis; hypoglycemia; hyperuricemia; hypophosphatemia Hyperammonemia; hyperglycinemia Secondary metabolic abnormalities Abbreviations: CAH, congenital adrenal hyperplasia; GSD, glycogen storage disease; HFI, hereditary fructose intolerance; OTC, ornithine transcarbamoylase; HHH, hyperammonemia-hyperornithinemia-homocitrullinemia.
E. & Gibson, K. M. (eds). (2003). Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases, 2nd ed, Heidelberg: Springer-Verlag. DiMauro, S. & Schon, E. A. (2003). Mitochondrial respiratory-chain diseases. New England Journal of Medicine, 348, 2656–68. Fernandes, J. Saudubray, J. M. & Van den Berghe, G. (eds). (2000). Inborn Metabolic Diseases, 3rd ed, Heidelberg: Springer-Verlag. Gilbert-Barness, E. & Barness, L. A. (2000). Metabolic Diseases: Foundations of Clinical Management, Genetics, and Pathology.
2 Initial investigation of chronic encephalopathy Thorough developmental assessment and neurologic examination Brain imaging: CT or MRI scan Electrophysiologic studies: auditory brain stem responses, visual evoked potentials, somatosensory evoked potentials, nerve conduction studies, EMG Radiographs of the hands, chest, and lateral of the spine: for evidence of dysostosis multiplex (see Chapter 6) Plasma amino acid analysis: screening by thin-layer chromatography will meet most needs; quantitative amino acid analysis, if abnormalities are found (see Chapter 9) Urinary amino acid thin-layer or paper chromatography Urinary organic acid analysis, even in the absence of overt metabolic acidosis Plasma ammonium, preferably two hours after a normal meal of protein-containing food Plasma lactate Urinary MPS screening test (see Chapter 9) Urinary oligosaccharide screening test (see Chapter 9) Abbreviations: MPS, mucopolysaccharide; EMG, electromyography.
A Clinical Guide to Inherited Metabolic Diseases (3rd Edition) by Joe T. R. Clarke