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SLC13A5 citrate transporter disorder, or SLC13A5 Epilepsy, is a rare genetic spectrum disorder that presents with neurological symptoms. Symptoms include severe seizures, ataxia, dystonia, teeth hypoplasia, poor communication skills, difficulty standing or walking, as well as developmental delay. [1]
Kearns–Sayre syndrome; Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS syndrome) Mitochondrial neurogastrointestinal encephalopathy syndrome ; Myoclonus with epilepsy and with ragged red fibers (MERRF syndrome) Neuropathy, ataxia, and retinitis pigmentosa (NARP syndrome) 277.88 Tumor lysis syndrome
E.g., reduction of dietary protein remains a mainstay of treatment for phenylketonuria and other amino acid disorders; Dietary supplementation or replacement E.g., oral ingestion of cornstarch several times a day helps prevent people with glycogen storage diseases from becoming seriously hypoglycemic. Medications
When it occurs simultaneously with alcoholic Korsakoff syndrome it is known as Wernicke–Korsakoff syndrome. [3] [4] Classically, Wernicke encephalopathy is characterised by a triad of symptoms: ophthalmoplegia, ataxia, and confusion. Around 10% of patients exhibit all three features, and other symptoms may also be present. [5]
Early infantile epileptic encephalopathy (acquired or congenital abnormal cortical development). Early myoclonic epileptic encephalopathy (possibly due to metabolic disorders). Gluten encephalopathy: Focal abnormalities of the white matter (generally area of low perfusion) are appreciated through magnetic resonance. Migraine is the most common ...
The treatment for PRES is supportive: removal of the cause or causes and treatment of any of the complications, such as anticonvulsants for seizures. PRES may be complicated by intracranial hemorrhage, but this is relatively rare. The majority of people recover fully, although some may experience some residual symptoms.
Zinc deficiency is defined either as insufficient zinc to meet the needs of the body, or as a serum zinc level below the normal range. However, since a decrease in the serum concentration is only detectable after long-term or severe depletion, serum zinc is not a reliable biomarker for zinc status. [1]
This treatment is injected intramuscularly (into a muscle) every few weeks and has unpleasant side effects such as pain. [ 23 ] People who are asymptomatic (for instance, those diagnosed through family screening or only as a result of abnormal test results) are generally treated, as the copper accumulation may cause long-term damage in the future.