Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0042875 (vitamin E deficiency)
 916 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hereditary metabolic diseases may appear during adolescence or young adulthood, revealed by an apparently unexplained neurological or psychiatric disorder. Certain metabolic diseases respond to specific treatments and should be identified early, particularly in emergency situations where rapid introduction of a treatment can avoid fatal outcome or irreversible neurological damage. The main diseases leading to an acute neurological syndrome in the adult are urea cycle disorders, homocysteine metabolisms disorders and porphyria. More rarely, Wilson's disease, aminoacid diseases, organic aciduria, or pyruvate dehydrogenase deficiency, beta-oxidation disordes or biotin metabolism may be involved. Most emergency situations can be screen correctly with simple tests (serum ammonia, homocysteine, lactate, urinary prophyrines, acylcarnitine pattern, amino acid and organic acid chromatography). For chronic situations, the main treatable diseases are Wilson's disease, homocysteine, cerebrotendinous xanthomatosis, Refsum's disease, vitamin E deficiency, Gaucher's disease, Fabry's disease, and neurotransmitter metabolism disorders. We present treatable metabolic disorders as a function of the different clinical situations observed in adults.
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PMID:[Treatable hereditary neuro-metabolic diseases]. 1803 24

Movement disorders in childhood comprise a heterogeneous group of conditions that lead to impairment of voluntary movement, abnormal postures, or inserted involuntary movements. Movement disorders in children are frequently caused by metabolic disorders, both inherited and acquired. Many of these respond to vitamin supplementation. Examples include infantile tremor syndrome, biotinidase deficiency, biotin-thiamine-responsive basal ganglia disease, pyruvate dehydrogenase deficiency, aromatic amino acid decarboxylase deficiency, ataxia with vitamin E deficiency, abetalipoproteinemia, cerebral folate deficiency, and cobalamin metabolism defects. Recognition of these disorders by pediatricians and neurologists is imperative as they are easily treated by vitamin supplementation. In this review, we discuss vitamin-responsive movement disorders in children.
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PMID:Vitamin-Responsive Movement Disorders in Children. 3260 20

Despite recent advances in the elucidation of etiology and pathogenesis of mitochondrial disorders, their therapeutic management remains challenging. This review focuses on currently available therapeutic options for human mitochondrial disorders. Current treatment of mitochondrial disorders relies on symptomatic, multidisciplinary therapies of various manifestations in organs such as the brain, muscle, nerves, eyes, ears, endocrine organs, heart, intestines, kidneys, lungs, bones, bone marrow, cartilage, immune system, and skin. If respiratory chain functions are primarily or secondarily impaired, antioxidants or cofactors should be additionally given one by one. All patients with mitochondrial disorders should be offered an individually tailored diet and physical training program. Irrespective of the pathogenesis, all patients with mitochondrial disorders should avoid exposure to mitochondrion-toxic agents and environments. Specific treatment can be offered for stroke-like episodes, mitochondrial epilepsy, mitochondrial neurogastrointestinal encephalopathy, Leber hereditary optic neuropathy, thiamine-responsive Leigh syndrome, primary coenzyme Q deficiency, primary carnitine deficiency, Friedreich ataxia, ethylmalonic encephalopathy, acyl-CoA dehydrogenase deficiency, pyruvate dehydrogenase deficiency, and hereditary vitamin E deficiency. Preventing the transmission of mitochondrial DNA-related mitochondrial disorders can be achieved by mitochondrion replacement therapy (spindle transfer, pronuclear transfer). In conclusion, specific and nonspecific therapies for human mitochondrial disorders are available, and beneficial effects have been anecdotally reported. However, double-blind, placebo-controlled studies to confirm effectiveness are lacking for the majority of the measures applied to mitochondrial disorders. Transmission of certain mitochondrial disorders can be prevented by mitochondrion replacement therapy. A multidisciplinary approach is required to meet the therapeutic challenges of patients with mitochondrial disorders.
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PMID:Clinical Therapeutic Management of Human Mitochondrial Disorders. 3305 53