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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Extra resources for Inborn Metabolic Diseases: Diagnosis and Treatment
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. 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.
In the following pages, neurological symptoms are presented according to two different viewpoints. 11]. The second is an analytical view giving an extensive alphabetical list of disorders for each neurologic symptom (remainder of the section). Of course, these two views are complementary and involve inevitable redundancies. It is always recommended that one look at both. 11 present a general approach to inborn errors of metabolism involving neurologic and/or mental deterioration. Diseases are classified according to their age at onset, the presence or absence of associated extraneurologic signs, and fue neurologic presentation itself; the last is based largely on the clinical classification of Lyon and Adams .
The diagnosis relies on the finding of a low glucose level in the CSF while the simultaneous blood glucose level is normal. Late Infancy to Early Childhood (1-5 Years) In this period, diagnosis becomes easier. 10). Category 1: with Visceral, Craniovertebral, Ocular, or Other Somatic Abnormalities When these symptoms are present and associated with a slowing or regression of development, diagnosis is usually easy. Mucopolysaccharidosis types I and II, mucolipidosis type III, oligosaccharidosis, Austin disease, Niemann-Pick disease type C, Gaucher disease type III, and lactosyl ceramidosis are usually easy to recognize.