Consequences of hyperuricemia among GSD I patients include the development of kidney stones and the accumulation of uric acid crystals in joints, leading to kidney disease and gout, respectively. Hyperlipidemia and plasma effects
Elevated triglycerides in GSD I result from low serum insulin in patients with frequent prolonged hypoglycemia. It may also be caused by intracellular accumulation of glucose-6-phosphate with secondary shunting to pyruvate, which is converted into Acetyl-CoA, which is transported to the cytosol where the synthesis of fatty acids and cholesterol occurs. Triglycerides above the 3.4 mmol/L (300 mg/dL) range may produce visible lipemia, and even a mild pseudohyponatremia due to a reduced aqueous fraction of the blood plasma. In GSD I, cholesterol is typically only mildly elevated compared to other lipids. Hepatomegaly
Impairment in the livers ability to perform gluconeogenesis leads to clinically apparent hepatomegaly. Without this process, the body is unable to liberate glycogen from the liver and convert it into blood glucose, leading to an accumulation of stored glycogen in the liver. Hepatomegaly from the accumulation of stored glycogen in the liver is considered a form of non-alcoholic fatty liver disease. GSD I patients present with a degree of hepatomegaly throughout life, but severity often relates to the consumption of excess dietary carbohydrate. Reductions in the mass of the liver are possible, since most patients retain residual hepatic function that allows for the liberation of stored glycogen at a limited rate. GSD I patients often present with hepatomegaly from the time of birth.
Elective mutism is a now outdated term which was defined as a refusal to speak in almost all social situations (despite normal ability to do so), while selective mutism was considered to be a failure to speak in specific situations and is strongly associated with social anxiety disorder. In contrast to selective mutism, it was thought someone who was electively mute may not speak in any situation, as is usually shown in books and films. Elective mutism was often attributed to defiance or the effect of trauma. Those who are able to speak freely in some situations but not in others are now better described by selective mutism. History
In 1877, a German physician named the disorder aphasia voluntaria to describe children who were able to speak normally but often "refused" to.In 1980, a study by Torey Hayden identified four "subtypes" of Elective Mutism:
Symbiotic mutism: the most common of the forms, caused by a vocal and dominating mother and absent father (very rarely the other way around) and characterized by the use of mutism as controlling behavior around other adults. Speech phobic mutism: the least common, in which the child showed distinct fear at hearing a recording of their voice. This also involved ritualistic behaviors, which may reflect OCD, and was thought to be caused by the child having been told to keep a family secret. Reactive mutism: a reaction to trauma and/or abuse, with all children showing symptoms of depression and being notably withdrawn, usually showing no facial expressions.