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Summary
GLYCOGENOSIS, TYPE IB
GLYCOGEN STORAGE DISEASE I non A GSD1 non a
232220
OMIM = Online Medalian Inheritance of Men
364
11q23
1:200.000 autosomal recessive one patient known to the authors (unpublished), resistance to infections improved by gamma-globuline treatment
symptoms
bleeding tendencies, hemorrhages
early death
gout
hepatoma
hepatomegaly (large liver)
hypoglycemia
hypotonia
infections (local, abscesses)
ketosis
lactic acidosis
neutropenia (decreased neutrophils)
nose bleed
onset, infant
onset, newborn
seizures
short stature
thrombopenia, thrombocytopenia
xanthoma
laboratory finding
Uric acid 0.605.50increasedserum
Cholesterol5.0010.003.105.20mmol/lserum
Glucose0.501.002.803.80mmol/lserum
Ketone bodies ++/+++urine
Lactate3.0010.000.801.50mmol/lblood
Transaminases30.00260.0010.0030.00U/lserum
Triglycerides 30.0099.00increasedserum
bleeding time 3.005.00prolongedblood
Literature
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Ten Brink HJvan den Heuvel CMM, Poll-The BT, Wanders RJA, Jacobs CPeroxysomal Disorders: Concentrations of metabolites in cerebrospinal fluid compared wth plasmaJ Inherit Metab Dis160587-5891993
Skjeldal OHStokke OClinical and biochemical hetrogeneity in conditions with phytanic acid accumulationJ Neurol Sci77087-961987
Ten Brink HJvan den Heuvel CMM, Poll-The BT, Wanders RJA, Jacobs CPeroxysomal Disorders: Concentrations of metabolites in cerebrospinal fluid compared wth plasmaJ Inherit Metab Dis160587-5891993