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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.
In some cases, certain parasites can cause seizures. The Schistosoma sp. flukes cause Schistosomiasis. Pork tapeworm and beef tapeworm cause seizures when the parasite creates cysts at the brain. Echinococcosis, malaria, toxoplasmosis, African trypanosomiasis, and many other parasitic diseases can cause seizures.
They often have seizures, which can range in severity and responsiveness to treatment, and they are typically developmentally delayed. [6] Glycine encephalopathy can also present as a milder form with episodic seizures, ataxia, movement disorders, and gaze palsy during febrile illness. These patients are also developmentally delayed, to varying ...
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]
It is the first described disorder of creatine metabolism, [2] and results from deficient activity of guanidinoacetate methyltransferase, an enzyme involved in the synthesis of creatine. [3] Clinically, affected individuals most commonly present with developmental delay, behavior disorder, and seizures. [4]
If left untreated (and often even in treatment), complications of PKU include severe intellectual disability, brain function abnormalities, microcephaly, mood disorders, irregular motor functioning, and behavioral problems such as attention deficit hyperactivity disorder, as well as physical symptoms such as a "musty" odor, eczema, and ...