If you do not allow these cookies, you will experience less targeted advertising. They do not store directly personal information, but are based on uniquely identifying your browser and internet device. ![]() They may be set through our site by our advertising partners, to build a profile of your interests and to show you relevant adverts on other sites. If you do not allow these cookies, some or all of these services may not function properly. They may be set by us or by third parties whose services we have added to our pages. They enable website’s enhanced functionality and personalisation. If you do not allow these cookies we will not know when you have visited our site, and will not be able to monitor its performance. They show us which pages are the most and least popular and how visitors move around the site. They allow us to count visits and traffic sources, to measure and improve the performance of our site. You can set your browser to block or alert you about these cookies, but some parts of the site will not then work. They are usually only set in response to actions made by you which amount to a request for services (setting your privacy preferences, logging in, filling in forms, etc.). With early diagnosis and appropriate therapy the prognosis is good, but because the disorder is mild, diagnostic delay is common and some neurological damage may be sustained.They are necessary for the website to function and cannot be switched off. Special monitoring during pregnancy is vital. Patients must adhere to a strict life-long diet to avoid episodes of acute decompensation. Management of acute decompensation requires aggressive enhancement of protein anabolism using glucose plus insulin, intravenous lipids, plasma amino acid monitoring, and isoleucine and valine supplements. Infants require high calorie BCAA-free formulas, dietary leucine restriction and close outpatient monitoring at a metabolic clinic. Treatment of intermediate MSUD is similar to classic MSUD. Intermediate MSUD is inherited autosomal recessively and genetic counseling is possible. Prenatal diagnosis is possible in families with a known disease-causing mutation. Differential diagnosisÄifferential diagnoses of the presenting symptoms include other inborn errors of intermediary metabolism such as NAGS deficiency, ornithine transcarbamylase deficiency, argininosuccinic aciduria (and other urea cycle defects), neonatal glycine encephalopathy, propionic acidemia, methylmalonic acidemia, and beta-ketothiolase deficiency (see these terms). Molecular genetic testing can identify a disease causing mutation, equally confirming diagnosis. ![]() Patients have 3-30% BCKAD activity so their levels of plasma BCAAs are not as high as those seen in classic MSUD (see this term). Plasma leucine levels are increased while isoleucine and valine levels may be normal or increased. Otherwise, plasma amino acid analysis is diagnostic. Intermediate MSUD can be diagnosed by tandem mass spectrometry newborn screening. A mutation in the PPM1K gene (4q22.1) was found in one case. In intermediate MSUD mutations in BCKDHB and DBT predominate. Mutations lead to accumulation of BCAAs (especially leucine) and branched-chain alpha-ketoacids. The genes are BCKDHA (19q13.1-q13.2), encoding E1a, BCKDHB (6q14.1), encoding E1b, and DBT (1p31), encoding E2 respectively. Poor feeding and vomiting: Babies with MSUD may have difficulty feeding, be irritable and fussy, and vomit frequently. This odor is caused by the buildup of BCAAs. MSUD is due to mutations in genes encoding 3 of the 4 subunits of the branched chain 2-ketoacid dehydrogenase (BCKAD) complex. Common symptoms of MSUD Sweet-smelling urine and sweat: Infants with MSUD may have urine that smells sweet and fruity, similar to the smell of maple syrup or burnt sugar. Like classic MSUD (see this term), catabolic stress can result in acute decompensation with anorexia, vomiting, ataxia (in infants/toddlers), cognitive impairment, sleep disturbances, hallucinations, hyperactivity, mood swings, acute dystonia, choreoathetosis (in adults), stupor, coma and cerebral edema, if untreated. Older children usually present with learning difficulties. Infants may have feeding problems, poor growth, maple syrup odor in urine and developmental delay. Metabolic crises occur when there is a sudden and intense. ![]() ![]() Symptom onset of intermediate MSUD varies between the early months and the early years of childhood. Even babies in a treatment plan can experience incidents of extreme sickness, called metabolic crises. Around 30% of cases are believed to be of the intermediate type. The estimated birth prevalence of MSUD is 1/ 150,000.
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