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Summary
GLYCOGEN STORAGE DISEASE TYPE IV. ANDERSON DISEASE
GSD4 ANDERSON DISEASE AMYLOPECTINOSIS
232500
OMIM = Online Medalian Inheritance of Men
367
3p12.2
  • cornstarch, uncooked
  • gastric drip feeding at night
  • liver transplantation
rare (1:1000.000)
autosomal recessive
hypoglycemia is a rare finding Glycogenosis type IV does not always necessitate hepatic transplantation (McConkie-Rosell, 1996)
symptoms
arthrogryposis
ascites
cardiomegaly
cardiomyopathy
cardiomyopathy, hypertrophic
cirrhosis or fibrosis of liver
Coagulopathy/Coagulation factors
diarrhea
early death
failure to thrive
fetal akinesia/hypokinesia sequence
hepatomegaly (large liver)
hypoglycemia
hypotonia
jaundice
limb abnormalities, limb deformities
liver failure
liver involvement or dysfunction
lung hypoplasia
motor retardation
muscle atrophy
muscle weakness
myopathy
onset, childhood
onset, fetus
onset, infancy
onset, neonatal
polyhydramnion (maternal)
splenomegaly (large spleen)
laboratory finding
Transaminases30.00260.0010.0030.00U/lserum
alpha-1,4 Glucan-6-alpha-glucosyltransferase 100.00decreased activityfibroblasts
alpha-1,4 Glucan-6-alpha-glucosyltransferase 100.00decreased activityliver
alpha-1,4 Glucan-6-alpha-glucosyltransferase 100.00decreased activitymuscle
alpha-1,4 Glucan-6-alpha-glucosyltransferase 100.00decreased activityleucocytes
alpha-1,4 Glucan-6-alpha-glucosyltransferase 100.00decreased activityerythrocytes
D-Glucose 3.305.50decreasedblood
Chitotriosidase increased activityplasma
Bilirubin normal-increasedplasma
Glycogen increasedliver
1,4-alpha-glucan-branching enzyme decreased activitymuscle, liver, WBC,
Literature
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Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Loots DTErasmus E, Mienie LJIdentification of 19 new metabolites induced by abnormal amino acid conjugation in isovaleric acidemiaClin Chem5181510-15122005
Henter JIet al.HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosisPediatr Blood Cancer482124-1312007
Loots DTMienie LJ, Erasmus EAmino-acid depletion induced by abnormal amino-acid conjugation and protein restriction in isovaleric acidemiaEur J Clin Nutr002007
Carrozzo Ret al.SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafnessBrain1300862-8742007
Hoffmann GFMeier-Augenstein W, St+Âckler S, Surtees R, Rating D, Nyhan WLPhysiology and Pathophysiology of Organic Acid in Cerebrospinal FluidJ Inherit Metab Dis160648-6691993
Jakobs Cet al.Various organic aciduriasin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London00163-1761996
Bischof Fet al.3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an adult with leukoencephalopathyAnn Neurol7275727-7302004
Hoffmann GFMeier-Augenstein W, St+Âckler S, Surtees R, Rating D, Nyhan WLPhysiology and Pathophysiology of Organic Acid in Cerebrospinal FluidJ Inherit Metab Dis160648-6691993
Henter JIet al.Treatment of hemophagocytic lymphohistiocytosis with HLH-94 immunochemotherapy and bone marrow transplantationBlood10072367-23732002
Ostergaard Eet al.Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutationsBrain1300606-6092007