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Summary
GLYCOGEN STORAGE DISEASE TYPE III. FORBES DISEASE, CORI DISEASE
GSD3 FORBES DISEASE, CORI DISEASE, DEBRANCHER GLYCOGENOSIS
232400
OMIM = Online Medalian Inheritance of Men
366
1p21.2
  • cornstarch, uncooked
  • frequent feeding
  • gastric drip feeding at night
  • maltodextrin
rare (1:125.000, Israel 1:5420)
autosomal recessive
2 types:
- IIIa: liver and muscle involvement, almost indistinguishable from GSD I in infancy
- IIIb: only liver involvement (15%)
symptoms
cardiomyopathy
cardiomyopathy, hypertrophic
growth retardation
hepatomegaly (large liver)
hypoglycemia
ketosis
muscle weakness
myopathy
onset, child
onset, infant
progressive muscle defect
short stature
laboratory finding
Cholesterol5.0010.003.105.20mmol/lserum
Creatine kinase40.001500.0040.00400.00U/lserum
Transaminases30.002000.0010.0030.00U/lserum
Glucose0.501.002.803.80mmol/lserum
Ketone bodies ++/+++urine
Triglycerides 30.0099.00increasedserum
Amylo-1,6-glucosidase 100.00decreased activitymuscle
Amylo-1,6-glucosidase 100.00decreased activityliver
ECG abnormalities -
EMG abnormalities -
Uric acid normal-increasedserum
Lactate normal-increasedplasma
Literature
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Haas DHoffmann GFMevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndromeOrphanet J Rare Dis10132006
Huemer Met al.Prenatal and postnatal treatment in cobalamin C defectJ Pediatr1474469-4722005
Hershfield JRet al.Aspartoacylase is a regulated nuclear-cytoplasmic enzymeFASEB J002006
Haas DHoffmann GFMevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndromeOrphanet J Rare Dis10132006
Zikanova Met al.Preparation of 5-amino-4-imidazole-N-succinocarboxamide ribotide, 5-amino-4-imidazole-N-succinocarboxamide riboside and succinyladenosine, compounds usable in diagnosis and research of adenylosuccinate lyase deficiencyJ Inherit Metab Dis284493-4992005
Salerno CCrifo CBiochemical and molecular genetic correlation in adenylosuccinate lyase deficiency.Nucleosides Nucleotides Nucleic Acids2301253-12552004
Spiegel EKColman RF, Patterson DAdenylosuccinate lyase deficiencyMol Genet Metab89019-312006
Smith SEet al.Subacute combined degeneration of the spinal cord in cblC disorder despite treatment with B12Mol Genet Metab882138-1452006