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Protein involved in Iron metabolism disorder (HFE) Inherited metabolic disorders are one cause of metabolic disorders, and occur when a defective gene causes an enzyme deficiency. [6] These diseases, of which there are many subtypes, are known as inborn errors of metabolism. [7] Metabolic diseases can also occur when the liver or pancreas do ...
Pages in category "Disorders causing seizures" ... This list may not reflect recent changes. Causes of seizures; A.
Other conditions have been associated with lower seizure thresholds and/or increased likelihood of seizure comorbidity (but not necessarily with seizure induction). Examples include depression , psychosis , obsessive-compulsive disorder (OCD), attention deficit hyperactivity disorder (ADHD), and autism , among many others.
Apart from their seizure disorder, these patients are otherwise normal. Seizures usually involve facial muscles and frequently cause drooling and difficulty with speech, although the child is aware throughout the seizure. Although most episodes are brief, seizures that occur in sleep may spread to both sides of the body with convulsive activity.
Diagnosis of PME is based on the individual's signs and symptoms as well as failure to respond to antiepileptic drugs and therapy. [3] Further diagnosis support includes EEG results, genetic testing, enzyme testing, and skin and muscle biopsies. [2] Gaucher's disease can be diagnosed through enzyme testing as it is a metabolic disease. [4]
Inborn errors of metabolism are often referred to as congenital metabolic diseases or inherited metabolic disorders. [2] Another term used to describe these disorders is "enzymopathies". This term was created following the study of biodynamic enzymology , a science based on the study of the enzymes and their products.