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The signs and symptoms of hypoglycemia are present (see section below on Signs and Symptoms) [2] [10] A low blood glucose measurement is present, typically less than 70 mg/dL (3.9 mmol/L) [2] The signs and symptoms of hypoglycemia resolve after blood glucose levels have returned to normal [2]
GLUT1 deficiency is characterized by an array of signs and symptoms including mental and motor developmental delays, infantile seizures refractory to anticonvulsants, ataxia, dystonia, dysarthria, opsoclonus, spasticity, other paroxysmal neurologic phenomena and sometimes deceleration of head growth also known as microcephaly. The presence and ...
PMM2 deficiency or PMM2-CDG, previously CDG-Ia, is a very rare genetic disorder caused by mutations in PMM2. It is an autosomal recessive disease that is the most common type of congenital disorder of glycosylation or CDG. [2] PMM2-CDG is the most common of a growing family of more than 130 extremely rare inherited metabolic disorders. [3]
In October 1974, The New England Journal of Medicine carried an article "Non-hypoglycemia as an epidemic condition" which described the condition as a "non-disease". [4] The authors claim Over the past few years people have appeared in droves with the self-diagnosis of "hypoglycemia" – a term that has become the layman's final common pathway ...
Some of the symptoms that can occur with metabolic disorders are lethargy, weight loss, jaundice and seizures. The symptoms expressed would vary with the type of metabolic disorder. There are four categories of symptoms: acute symptoms, late-onset acute symptoms, progressive general symptoms and permanent symptoms. [5]
Ketotic hypoglycemia classically presents in male young children, typically between the ages of 10 months and 6 years, in the morning after a prolonged overnight fast. Symptoms include those of neuroglycopenia, ketosis, or both. [6] [7] Neuroglycopenic symptoms usually include lethargy and malaise, but may include unresponsiveness or seizures.
Severe forms may have continual pain from general life activity. The adult form has a variable age of onset. The first appearance of symptoms usually occurs between 6 and 20 years of age but has been documented in patients as young as 8 months as well as in adults over the age of 50. Roughly 80% cases reported to date have been male. [citation ...
Glycogen storage disease type I has an autosomal recessive pattern of inheritance. GSD I is inherited in an autosomal recessive manner. People with one copy of the faulty gene are carriers of the disease and have no symptoms. As with other autosomal recessive diseases, each child born to two carriers of the disease has a 25% chance of ...