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DYSMETABOLIE [2 records]

Record 1 2003-07-21

English

Subject field(s)
  • Genetics
OBS

Genetically determined biochemical disorder due to specific congenital defects in the structure or function of protein molecules.

French

Domaine(s)
  • Génétique
OBS

Maladie due à un défaut constitutionnel et héréditaire qui empêche la synthèse d’une enzyme: Ex. l’oligophrénie phénylpyruvique.

Spanish

Campo(s) temático(s)
  • Genética
Save record 1

Record 2 2000-03-02

English

Subject field(s)
  • Endocrine System and Metabolism
CONT

Patients with liver disease may show signs of B1 deficiency, possibly because of deficient synthesis of lipoic acid. In vitro, thiamine deficiency produces accumulation of pyruvate and lactate, reduction of acetate, citrate and alpha-keto-glutarate and reduced acetylcholine synthesis. Any of these metabolic changes could be involved in dysfunction.

French

Domaine(s)
  • Systèmes endocrinien et métabolique
DEF

Déséquilibre métabolique caractérisé par l’incapacité de l’organisme à synthétiser une substance indispensable à son fonctionnement.

Spanish

Campo(s) temático(s)
  • Sistemas endocrino y metabólico
Save record 2

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