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In addition to the features present in moderate glutathione synthetase deficiency, individuals affected by the severe form of this disorder may experience neurological symptoms. These problems may include seizures ; a generalized slowing down of physical reactions, movements, and speech ( psychomotor retardation ); intellectual disability ; and ...
Breakthrough seizures are more likely with a number of triggers. [54]: 57 Often when a breakthrough seizure occurs in a person whose seizures have always been well controlled, there is a new underlying cause to the seizure. [55] Breakthrough seizures vary. Studies have shown the rates of breakthrough seizures ranging from 11 to 37%. [56]
Glycine encephalopathy is sometimes referred to as "nonketotic hyperglycinemia" (NKH), as a reference to the biochemical findings seen in patients with the disorder, and to distinguish it from the disorders that cause "ketotic hyperglycinemia" (seen in propionic acidemia and several other inherited metabolic disorders). To avoid confusion, the ...
Patients may develop seizures and/or neuropathological spasms. These presentations of the disease usually progress to mental retardation, microcephaly, blindness, and spasticity. [5] [6] [7] Females with residual pyruvate dehydrogenase activity will have no uncontrollable systemic lactic acidosis and few, if any, neurological symptoms.
Seizures usually are complex to begin with and later become more generalized. Seizure frequency is variable and a history of decreasing frequency during times of ketosis may prompt a diagnosis. It is estimated that 10% of individuals with Glut 1 Deficiency do not have seizures and symptoms are typically less severe in these cases. [7]
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]