Visit Metagene.de!
Summary
GLYCOGEN STORAGE DISEASE TYPE IB
GSD1b GLYCOGEN STORAGE DISEASE I non A GSD1 non a
232220
OMIM = Online Medalian Inheritance of Men
364
11q23.3
rare (1:200.000)
autosomal recessive
mutation in the G6PT1 gene
one patient known to the authors (unpublished), resistance to infections improved by gamma-globuline treatment
symptoms
bleeding tendencies, hemorrhages
cirrhosis or fibrosis of liver
early death
gout
hepatoma
hepatomegaly (large liver)
hypoglycemia
hypotonia
infections (local, abscesses)
ketosis, ketoacidosis
lactic acidosis
neutropenia (decreased neutrophils)
nose bleed
onset, childhood
onset, infancy
onset, neonatal
osteoporosis
pancreatitis
seizures
short stature
thrombopenia, thrombocytopenia
xanthoma
laboratory finding
Uric acid 100.00350.00increasedserum
Cholesterol5.0010.003.105.20mmol/lserum
D-Glucose0.501.001.703.70mmol/lserum
Ketone bodies ++/+++urine
Lactic acid3.0010.000.801.50mmol/lblood
Transaminases30.00260.0010.0030.00U/lserum
Triglycerides 30.0099.00increasedserum
bleeding time 3.005.00prolongedblood
Literature
Oey NAet al.Acyl-CoA dehydrogenase 9 (ACAD 9) is the long-chain acyl-CoA dehydrogenase in human embryonic and fetal brainBiochem Biophys Res Commun346133-372006
Mistry PK,et al.Gaucher disease: Progress and ongoing challengesMol Genet Metab12018-212017
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Hart CEet al.New disorder of serine/glycine biosysnthesis: phosphoserine aminotransferase (PSAT) deficiency?J Inher Met Dis Suppl 1290502006
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
Zhao HM,Zhang J, You JYResearch progress in causes of persistent or chronic diarrhea in childrenZhongguo Dang Dai Er Ke Za Zhi148639-6422012
He Met al.A new disorder in fatty acid beta-oxidationJ Inher Met Dis Suppl 1290562006
Bersani G,et al.Extensive irregular Mongolian blue spots as a clue for GM1 gangliosidosis type 1J Dtsch Dermatol Ges143301-3022016
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