History and exam
Key diagnostic factors
common
family history of GSD I
Considered a key risk factor.
frequent feedings
Infants may never have been able to sleep through the night without feeding.
hepatomegaly
A distinguishing feature of GSD I. Enlarged kidneys also occur in a majority of patients, but may only be demonstrated by abdominal ultrasonography.
distended abdomen
This sign is secondary to hepatomegaly.
Other diagnostic factors
common
hyperpnoea
Episodes of rapid breathing may be caused by metabolic acidosis.
faltering growth
Faltering growth in relation to GSD is not completely understood, but could be associated with suboptimal glycaemic control and suboptimal metabolic control, reflected by chronic metabolic acidosis.
delayed puberty
May be caused by hypoglycaemia.
lethargy
May result from hypoglycaemia, metabolic acidosis, or both.
hypotonia or muscle pain in the morning
Reduction in muscle mass.
tendency to bleed
Epistaxis, ecchymoses, and prolonged bleeding after dental surgery (or other surgery) is caused by impaired platelet function in GSD I.
uncommon
developmental delay
Only occurs if recurrent hypoglycaemic seizures have resulted in cerebral damage.
nausea and vomiting
May result from hypoglycaemia and lactic acidosis.
seizures
May be caused by hypoglycaemia.
cushingoid appearance
May be present in untreated or inadequately treated infants and children.
eruptive xanthomata
May be present on extensor surfaces in patients with extreme hyperlipidaemia.
Risk factors
strong
family history
Autosomal recessive condition. One in 4 chance of offspring being affected if there is an affected sibling.
Use of this content is subject to our disclaimer