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This page was last edited on 19 September 2024, at 00:16 (UTC).; Text is available under the Creative Commons Attribution-ShareAlike 4.0 License; additional terms may apply.
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 ...
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]
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.
The disease may present clinically with seizures, hypopigmentation (excessively fair hair and skin), and a "musty odor" to the baby's sweat and urine (due to phenylacetate, a carboxylic acid produced by the oxidation of phenylacetone). In most cases, a repeat test should be done at approximately two weeks of age to verify the initial test and ...
Mitochondrial myopathies are diseases caused by mutations related to mitochondria, and thus are generally inherited from the mother with variable expressivity due to heteroplasmy. Kearns–Sayre syndrome; Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) Myoclonic epilepsy with ragged red fibers (MERRF)