By J.-M. Saudubray, H. Ogier (auth.), John Fernandes M. D., Jean-Marie Saudubray M. D., Keiya Tada M. D. (eds.)
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Additional info for Inborn Metabolic Diseases: Diagnosis and Treatment
N Eng! BERGER Summary Defects in the interconversion and catabolism of compounds derived from intermediary metabolism usually cause profound alterations in the biochemical composition of physiological fluids. llethods have been developed to analyze these physiologic fluids for metabolites normally not present or at defined concentrations. These methods range from simple one-dimensional thin layer chromatography to advanced combined gas chromatography-mass spectrometry. Due to the screening character, they are designed such that in one single analysis a complex mixture of a certain class of metabolites (e.
Depending on the instruments used and the skill of the pediatrician, 10-20 mg wet weight liver and 20-50 mg wet weight muscle tissue can be obtained by a single puncture. Due to the availability of very sensitive and accurate enzyme assays this amount of tissue is for almost all disorders sufficient for complete analysis. In the case of liver, enzyme assays can be combined with histological and electronmicroscopic examination. For muscle the structure of the tissue obtained by needle puncture procedures is often disrupted to such an extent that histological investigations are not possible.
Acute attacks Porphyrias Tyrosinemia type I 2. -M. SAUDUBRAY and H. -M. SAUDUBRAY and H. OGIER Osteology Osteoporosis Lysinuric protein intolerance Infantile Refsum disease Homocystinuria I cell disease (RA - 25 250) Punctate epiphyseal calcifications Peroxisomal disorders Chondrodysplasia punctata rhizomelic type Conradi Hunermann disease (DA - 11865) Familial resistance to thyroid hormone (RA - 27 430) Warfarin embryopathy /)-glucuronidase deficiency (lysosomal) Pneumology Pneumonitis (interstitial) Dibasic aminoaciduria Niemann-Pick B (RA- 25720) Psychiatry Acute attacks of delirium, hallucinations, mental confusion, hysteria, psychosis Congenital hyperammonemia Homocystinuria due to remethylation defects (folate and cobalamine metabolism deficiencies) Porphyrias Acute and inaugural attacks along the course of a progressive disorder Progressive disorders with intellectual distintegration, mental regression, psychosis Untreated phenylketonuria Ceroid lipofuscinosis (RA- 20420; Spielmeyer-Vogt) Metachromatic leucodystrophy (RA- 25000) X-linked adrenoleucodystrophy (RX-linked - 30010) Lafora disease Niemann-Pick C (late onset; RA- 25722) Rett syndrome (OX-linked - 31275) San Filippo disease (RA - 25 290) Wilson disease (RA - 27 790) Usher syndrome (RA - 27 690) Clinical Approach to Inherited Metabolic Disorders 25 Rheumatology Arthritis - joint contractures Alkaptonuria Gaucher type I Lesch Nyhan syndrome Farber disease (RA - 22 800) Familial Gout (DA - 13 890) I cell disease (RA ~ 25 250) (lysosomal) Mucolipidosis III Homocystinuria Mucopolysaccharidosis I S Vascular symptoms Raynaud syndrome Fabry disease (RX-Iinked ~ 30 150) Thromboembolic accidents Homocystinuria Ehlers Danlos type IV References 1.