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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, poor growth
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 acid1.005.00 mmol/lplasma
3-Methylglutaconic acid10.00300.00 mmol/mol creatinineurine
Lactate/Pyruvate ratio ratioblood
Transaminases U/lserum
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
Fellman VGRACILE syndrome--a severe neonatal mitochondrial disorderDuodecim128151560-15672012
Fellman V,et al.Screening of BCS1L mutations in severe neonatal disorders suspicious for mitochondrial causeJ Hum Genet536554-5582008
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
Kotarsky H,et al.Characterization of complex III deficiency and liver dysfunction in GRACILE syndrome caused by a BCS1L mutationMitochondrion105497-5092010
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
Visap+ñ+ñ I,et al.GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1LAm J Hum Genet714863-8762002
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
Leveen P,et al.The GRACILE mutation introduced into Bcs1l causes postnatal complex III deficiency: a viable mouse model for mitochondrial hepatopathyHepatology532437-4472011
Fellman VThe GRACILE syndrome, a neonatal lethal metabolic disorder with iron overloadBlood Cells Mol Dis293444-4502002