By J. M. Saudubray, H. Ogier de Baulny, C. Charpentier (auth.), Dr. John Fernandes, Professor Jean-Marie Saudubray, Professor Georges Van den Berghe (eds.)
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Additional resources for Inborn Metabolic Diseases: Diagnosis and Treatment
Example text
In these disorders, the acylcarnitine profile determined (by a tandem MS-MS technique) from blood spots collected on dry filter paper can be very helpful in identifying characteristic acylcarnitine compounds. GA type I due to glutaryl-CoA-dehydrogenase deficiency can also present with permanent unsteady gait due to choreoathetosis and with dystonia developing abruptly after an acute episode resembling encephalitis. Category 5: Isolated Arrest or Psychic Regression Only a few disorders present between 1 year and 5 years of age with an isolated arrest or regression of psychic and perceptual functions and without significant neurologic or extraneurologic signs.
Several respiratorychain disorders first cause ataxia, intention tremor, dysarthria, epilepsy, myopathy, and (eventually) various multivisceral failures. 3-Hydroxyacyl-CoAdehydrogenase deficiency, L-2-hydroxyglutaric aciduria, 3-methylglutaconic aciduria, MMA, and PA disturb organic-acid excretion significantly, though sometimes only slightly and intermittently. In these disorders, the acylcarnitine profile determined (by a tandem MS-MS technique) from blood spots collected on dry filter paper can be very helpful in identifying characteristic acylcarnitine compounds.
Congenital immunodeficiencies are also frequently considered, although only a few present early in infancy with such a clinical picture. From a pathophysiologic viewpoint, it is possible to define two groups of inborn errors of metabolism presenting with chronic diarrhea and failure to thrive: 1. Disorders of the intestinal mucosa or the exocrine function of the pancreas - for example, congenital chloride diarrhea, glucose-galactose malabsorption, lactase- and sucrase-isomaltase deficiencies, a~ lipoproteinemia type II (Anderson disease), enterokinase deficiency, acrodermatitis enteropathica, and selective intestinal malabsorption of folate and vitamin B12 2.