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Nutritional and Metabolic Diseases > Metabolic Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Homocystinuria
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Homocystinuria
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Homocystinuria
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Homocystinuria
Skin and Connective Tissue Diseases > Connective Tissue Diseases > Homocystinuria
... > Nutritional and Metabolic Diseases > Nutrition Disorders > Malnutrition > Deficiency Diseases > Avitaminosis > Vitamin B Deficiency > Hyperhomocysteinemia > Homocystinuria
... > Digestive System Diseases > Gastrointestinal Diseases > Intestinal Diseases > Malabsorption Syndromes > Hyperhomocysteinemia > Homocystinuria
Nutritional and Metabolic Diseases > Metabolic Diseases > Malabsorption Syndromes > Hyperhomocysteinemia > Homocystinuria
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Amino Acid Metabolism, Inborn Errors > Hyperhomocysteinemia > Homocystinuria
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Amino Acid Metabolism, Inborn Errors > Hyperhomocysteinemia > Homocystinuria

Terme préférentiel

Homocystinuria  

Type

  • mesh:Descriptor

Définition

  • Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979)

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URI

http://data.loterre.fr/ark:/67375/JVR-H8RDGGBZ-4

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RDF/XML TURTLE JSON-LD Date de création 01/01/1999, dernière modification le 13/06/2014