Visit Metagene.de!
Summary
SENGERS SYNDROME
CATARACT AND CARDIOMYOPATHY
212350
OMIM = Online Medalian Inheritance of Men
1369
7q34
  • heart/lung/pancreas/liver transplantation
  • symptomatic therapy
rare (30 cases)
autosomal recessive
mutation in the AGK gene
2 types:
- severe neonatal form, early death
- later onset milder form
symptoms
cardiomyopathy
cardiomyopathy, hypertrophic
cataract
early death
encephalopathy
exercise intolerance
glaucoma
growth retardation
hypotonia
intellectual disability/intellectual developmental disorder (ID/ IDD)
lactic acidosis
liver involvement or dysfunction
motor retardation
muscle weakness
myopathy
myopia
nystagmus
onset, infancy
onset, neonatal
respiratory insufficiency
strabismus
thrombopenia, thrombocytopenia
laboratory finding
L-Lactic acid increasedplasma
3-Methylglutaconic acid normal-increasedurine
Literature
Peng L,et al.Genetic animal models to decipher the pathogenic effects of vitamin B12 and folate deficiencyBiochimie126043-512016
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
Huemer M,et al.Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelinesJ Inherit Metab Dis3861007-10192015
Sarbu M,et al.Automated chip-nanoelectrospray mass spectrometry for glycourinomics in Schindler disease type ICarbohydr Res398090-1002014
Wanders RJAet al.Human trifunctional protein deficiency: A new disorder of mitochondrial fatty acid beta-oxidationBiochem Biophys Res Commun18801139-11451992
Paul EA,et al.Atypical glomerulopathy associated with the cblE inborn error of vitamin B12 metabolismPediatr Nephrol2871135-11392013
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