tailieunhanh - Inborn Metabolic Diseases Diagnosis and Treatment - part 2

Cấp tính (tái phát các cuộc tấn công): 4 Rối loạn chuyển hóa porphyrin * 4 Tyrosinemia loại tôi mãn tính: 4 Chủ yếu sự khử myelin hóa thấp (NCV) 5 Trình bày hoặc vượt trội - Refsum bệnh (cuối thời thơ ấu đến tuổi trưởng thành) - X-ALD (thời thơ ấu đến tuổi trưởng thành): leucodystrophy - AMN (tuổi trưởng thành ) | 38 Chapter 1 A Clinical Approach to Inherited Metabolic Diseases Adulthood 4 Glutaric aciduria type I 4 GM2 gangliosidosis abnormal eye movements 4 Mitochondrial cytopathies Kearns-Sayre abnormal movements 4 Niemann-Pick C Gaucher III above 4 Non ketotic hyperglycinemia 4 Pyruvate dehydrogenase abnormal movements 4 Wilson disease Peripheral Neuropathy - EMG NCV Findings Acute recurrent attacks 4 Porphyrias 4 Tyrosinemia type I Chronic 4 Predominantly demyelination low NCV 5 Presenting or preponderant - Refsum disease late childhood to adulthood - X-ALD childhood to adulthood leucodystrophy - AMN adulthood 5 Accompanying symptom - Austin disease - p-mannosidosis - Farber lipogranulomatosis - Homocysteine remethylation defects MTHFR CblC - Krabbe leucodystrophy - Metachromatic leucodystrophy leucodystrophy - MNGIE syndrome leucodystrophy - Refsum disease - Tangier disease 4 Predominantly axonal normal NCV 5 Presenting or preponderant - Abetalipoproteinemia childhood - a-methylacyl-CoA racemase adolescence to adulthood - CDG type I childhood - GM2 gangliosidosis - LCHAD trifunctional childhood to adolescence - Peroxisomal biogenesis defects late childhood to adult - Polyglucosan body disease leucodystrophy - Pyruvate dehydrogenase childhood to adulthood - Vitamin E malabsorption tocopherol carrier 5 Accompanying symptom - Cerebrotendinous xanthomatosis leucodys-trophy - Neuroaxonal dystrophy Schindler early childhood leucodystrophy - Ornithine amino transferase late complications - P5C synthase late childhood - Porphyria - Pyroglutamic aciduria late complication - Respiratory chain early childhood to adolescence - Serine deficiency syndrome adolescence - Triose phosphate isomerase 5 Affecting small sensitive fibers and the autonomic nervous system - Fabry disease presenting sign - GM2 gangliosidosis - Porphyria - Tangier disease 5 Affecting anterior horn - GM2 gangliosidosis Krabbe disease - Homocysteine remethylation defects ClbC - Non ketotic hyperglycinemia - .