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Summary
GLYCOGEN STORAGE DISEASE TYPE IA
GSD1a VON GIERKE DISEASE
232200
OMIM = Online Medalian Inheritance of Men
364
17q21.31

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • allopurinol
  • cornstarch, uncooked
  • frequent feeding
  • gastric drip feeding at night
  • liver transplantation
  • maltodextrin
rare (1:100.000)
autosomal recessive
symptoms
adiposity
bleeding tendencies, hemorrhages
diarrhea
early death
facies, cherubic (dolls face)
Fanconi syndrome
gout
hepatoma
hepatomegaly (large liver)
hypoglycemia
hypotonia
ketosis, ketoacidosis
lactic acidosis
metabolic acidosis
microcephaly (<2 SD for age)
micropenis
nose bleed
onset, childhood
onset, infancy
onset, neonatal
pancreatitis
prominent abdomen
renal enlargement (large kidneys)
seizures
short stature
thrombopenia, thrombocytopenia
urolithiasis, kidney stones
xanthoma
laboratory finding
Uric acid 0.605.50increasedserum
L-Lactic acid3.0010.000.801.50mmol/lblood
Glucose 6-phosphatase 100.00decreased activityliver
Cholesterol5.0010.003.105.20mmol/lserum
Triglycerides 30.0099.00increasedserum
Transaminases30.0060.0010.0030.00U/lserum
D-Glucose0.501.002.803.80mmol/lserum
Ketone bodies ++/+++urine
Protein 50.0080.00increasedurine
bleeding time 3.005.00prolongedblood
2-Hydroxyisobutyric acid increasedplasma
Literature
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Janson CGet al.Mild-onset presentation of Canavans disease associated with novel G212A point mutation in aspartoacylase geneAnn Neurol592428-4312006
Shin YSKorall H, Breinig B, Podskarbi THeterogenic biochemical, metabolic and genetic features of Fabry diseaseJ Inher Met Dis Suppl 1290222006
Yalcinkaya Cet al.Atypical MRI findings in Canavan disease: a patient with a mild courseNeuropediatrics365336-3392005
Hennermann JBet al.Long-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuriaMol Genet Metab Suppl 100S86-S902005
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991
Kumar Set al.Canavan disease: a white matter disorderMent Retard Dev Disabil Res Rev122157-1652006