Any swelling of the brain requires immediate medical attention. Illnesses should always prompt a consultation with a physician, as these are vulnerable periods for a person with MSUD type 1B. [counsyl.com]

Figure 1 Computed tomogram showing swelling of white matter. Figure 2 Computed tomogram showing changes in white matter appearances after acute presentation. Urinary organic analysis revealed increased excretion of branched chain keto acids. [bjo.bmj.com]

Severe leucinosis, brain swelling, and death can occur if individuals with intermediate MSUD are subjected to sufficient catabolic stress. [flipper.diff.org]

Risks Failure to comply with the MSUD diet puts the patient at risk of elevated blood levels of BCAA s, subsequent swelling of brain tissue, seizures, and death from respiratory failure. [diet.com]

Alcohol Alcohol 24:271–279 PubMed Google Scholar Cho IJ, Chang HJ, Lee KE et al (2009) A case of Wernicke’s encephalopathy following fluorouracil-based chemotherapy. [link.springer.com]

On day 4 after admission, brain magnetic resonance imaging findings were consistent with encephalopathy due to MSUD. Proton magnetic resonance spectroscopy ((1) H-MRS) showed a large methyl resonance peak at 0.9 p.p.m. [ncbi.nlm.nih.gov]

Progressive encephalopathy with lethargy, intermittent apnea, stereotyped movements (described as "fencing" and bicycling") and opisthotonus occur in the first few days of life. [orpha.net]

Classic MSUD presents in the first days of life with poor feeding and drowsiness followed by a worsening encephalopathy with lethargy, intermittent apnea, stereotypic movements (“”fencing”” and ”bicycling””) and opisthotonus. [tellmegen.com]

Later, catabolic stress, infection or injury may cause acute, potentially fatal, leucine intoxication with vomiting, altered consciousness, ataxia and acute dystonia in toddlers and hallucinations, hyperactivity, focal dystonia, ataxia and choreoathetosis [orpha.net]

If untreated, it progresses to irreversible mental retardation, hyperactivity, failure to thrive, seizures, coma, cerebral edema, and possibly death. [mayomedicallaboratories.com]

Adolescents and adults with MSUD are at increased risk for attention deficit hyperactivity disorder (ADHD), depression and anxiety disorders. [ 2 ] Non-central nervous system involvement in MSUD can include: [ 2 ] Nutritional deficiencies: Chronic deficiency [patient.info]

Later, catabolic stress, infection or injury may cause acute, potentially fatal, leucine intoxication with vomiting, altered consciousness, ataxia and acute dystonia in toddlers and hallucinations, hyperactivity, focal dystonia, ataxia and choreoathetosis [orpha.net]

If left untreated further symptoms may develop including nausea, anorexia, dystonia, ataxia, cognitive impairment, hallucinations, and sleep disturbances. [thinkgenetic.com]

Early signs and symptoms are poor feeding, vomiting, lethargy, hypo or hypertonia, dystonia, seizures and encephalopathy which can lead to early death or permanent neurologic damage. Later in infancy or childhood, developmental delays are noted. [secure.ssa.gov]

Neurological signs (eg, alternating muscular hypotonia and hypertonia, dystonia, seizures, encephalopathy) develop rapidly. Ketosis and the characteristic odour of maple syrup in the urine are usually present when the first symptoms develop. [patient.info]

At the age of 6, during a family episode of common streptococcal pharyngitis, the patient developed high fever and vomiting and became increasingly somnolent. [pediatrics.aappublications.org]