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Summary
GLYCOGEN STORAGE DISEASE TYPE IC
GSD1c GLYCOGENOSIS, TYPE IC
232240
OMIM = Online Medalian Inheritance of Men
364
11q23.3
very rare (2 cases)
autosomal recessive
symptoms
growth retardation
hematuria
hepatomegaly (large liver)
hypoglycemia
hypotonia
ketosis
lactic acidosis
metabolic acidosis
motor retardation
nose bleed
onset, infant
pancreatitis
proteinuria
puberty, delayed or missing
pulmonary hypertension
renal failure, acute/chronic
seizures
thrombopenia, thrombocytopenia
xanthoma
laboratory finding
Uric acid0.000.000.605.50increasedserum
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
Cholesterol 1.804.50increasedserum
Literature
Ezquieta BLuzuriaga CNeonatal salt-wasting and 11 beta-hydroxylase deficiency in a child carrying a homozygous deletion hybrid CYP11B2 (aldosterone synthase)-CYP11B1 (11 beta-hydroxylase)Clin Genet6632292352004
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Britton TCet al.The significance of plasma phytanic acid levels in adultsJ Neurol Neurosurg Psychiatry5208911989
Skjeldal OHStokke OClinical and biochemical hetrogeneity in conditions with phytanic acid accumulationJ Neurol Sci77087-961987
Miller WLet al.P450 oxidoreductase deficiency: a new disorder of steroidogenesisAnn N Y Acad Sci10610100-1082005