Bad mma decisions 20161/13/2024 ![]() ![]() Prevention of secondary complications: MedicAlert ® bracelets and up-to-date, easily accessed, detailed emergency treatment and presurgical protocols to facilitate care. In those with significant metabolic instability and/or renal failure, liver and/or renal transplantation may be considered. ![]() The main principles of treatment are to provide supplemental vitamin B 12 to those who are known to be vitamin B 12 responsive restrict natural protein, particularly of propiogenic amino acid precursors, while maintaining a high-calorie diet address feeding difficulties, recurrent vomiting, and growth failure provide supplemental carnitine to those with carnitine deficiency reduce propionate production from gut flora and provide emergency treatment during episodes of acute decompensation with the goal of averting catabolism and minimizing central nervous system injury. ![]() Development and evaluation of treatment plans, training and education of affected individuals and their families, and avoidance of side effects of dietary treatment (i.e., malnutrition, growth failure) require a multidisciplinary approach by experienced subspecialists from a specialized metabolic center. Treatment of manifestations / Prevention of primary manifestations: When isolated MMA is suspected during the diagnostic evaluation due to elevated propionylcarnitine (C3) on a newborn blood spot, metabolic treatment should be initiated immediately, while the suspected diagnosis is being confirmed. However, secondary complications may still occur and can include intellectual disability, tubulointerstitial nephritis with progressive impairment of renal function, "metabolic stroke" (bilateral lacunar infarction of the basal ganglia during acute metabolic decompensation), pancreatitis, growth failure, functional immune impairment, bone marrow failure, optic nerve atrophy, arrhythmias and/or cardiomyopathy (dilated or hypertrophic), liver steatosis/fibrosis/cancer, and renal cancer. In those individuals diagnosed by newborn screening and treated from an early age, there appears to be decreased early mortality, less severe symptoms at diagnosis, favorable short-term neurodevelopmental outcome, and lower incidence of movement disorders and irreversible cerebral damage. Affected individuals can also develop ataxia, dysarthria, hypotonia, mild spastic paraparesis, and seizures. Methylmalonyl-CoA epimerase deficiency, in which findings range from complete absence of symptoms to severe metabolic acidosis. ![]()
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