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Summary
SENGERS SYNDROME
CATARACT AND CARDIOMYOPATHY
212350
OMIM = Online Medalian Inheritance of Men
1369
  • heart/lung/pancreas/liver transplantation
  • symptomatic therapy
rare (30 cases) autosoma recessive 2 types: - infantile type, early death - milder form
symptoms
cardiomyopathy
cataract
early death
hypotonia
lactic acidosis
muscle weakness
nystagmus
onset, newborn
laboratory finding
Literature
Robinson BHet al.Defects in the E2 lipoyl transacetylase and the X-lipoyl containing component of the pyruvate dehydrogenase complex in patients with lactic acidemiaJ Clin Invest8501821-18241990
Wanders RJAet al.Human trifunctional protein deficiency: A new disorder of mitochondrial fatty acid beta-oxidationBiochem Biophys Res Commun18801139-11451992
Sperl WDiagnosis and therapy of mitochondriopathiesWien Klin Wochenschr109093-991997
Plochl Eet al.Carnitine deficiency and carnitine therapy in a patient with Rett syndromeKlin Padiatr2080129-1341996
Bu DFet al.Two human glutamate decarboxylases, 65 kDa GAD and 67 kDa GAD, are each encoded by a single genePro Nat Acad Sci8902115-21191992
Gotoff SPNeonatal sepsis and meningitisNelson textbook of pediatrics 15th edition, W.B.Saunders Co00528-5301996