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GTR Home > Conditions/Phenotypes > Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Synonyms
GLUCOSE-6-PHOSPHATASE DEFICIENCY; GSD Ia; Glucose-6-phosphatase deficiency glycogen storage disease; Glycogen Storage Disease Type Ia; Glycogen storage disease type 1A; Glycogenosis type 1; HEPATORENAL FORM OF GLYCOGEN STORAGE DISEASE; HEPATORENAL GLYCOGENOSIS; VON GIERKE DISEASE

Summary

Glycogen storage disease type I (GSDI) is characterized by accumulation of glycogen and fat in the liver and kidneys resulting in hepatomegaly and nephromegaly. Severely affected infants present in the neonatal period with severe hypoglycemia due to fasting intolerance. More commonly, untreated infants present at age three to four months with hepatomegaly, severe hypoglycemia with or without seizures, lactic acidosis, hyperuricemia, and hypertriglyceridemia. Affected children typically have doll-like faces with full cheeks, relatively thin extremities, short stature, and a protuberant abdomen. Xanthoma and diarrhea may be present. Impaired platelet function and development of reduced or dysfunctional von Willebrand factor can lead to a bleeding tendency with frequent epistaxis and menorrhagia in females. Individuals with untreated GSDIb are more likely to develop impaired neutrophil and monocyte function as well as chronic neutropenia resulting in recurrent bacterial infections, gingivitis, periodontitis, and genital and intestinal ulcers. Long-term complications of untreated GSDI include short stature, osteoporosis, delayed puberty, renal disease (including proximal and distal renal tubular acidosis, renal stones, and renal failure), gout, systemic hypertension, pulmonary hypertension, hepatic adenomas with potential for malignancy, pancreatitis, and polycystic ovaries. Seizures and cognitive impairment may occur in individuals with prolonged periods of hypoglycemia. Normal growth and puberty are expected in treated children. Most affected individuals live into adulthood. [from GeneReviews]

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  • Also known as: G6PC, G6PT, G6Pase, GSD1, GSD1a, G6PC1
    Summary: glucose-6-phosphatase catalytic subunit 1

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Imported from Human Phenotype Ontology (HPO)

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