We present a neonate with classic type of MSUD and its imaging features on computed tomography, conventional magnetic resonance imaging, diffusion-weighted imaging, and magnetic resonance spectroscopy. [ FULL TEXT ] [ PDF ]* [jcnonweb.com]

In Table 1 , we present laboratory data of 19 newborns who screened positive for MSUD in Germany and Austria from 1999 to 2005. [clinchem.aaccjnls.org]

Case report: We aimed to report the cases of three families whose children were affected by MSUD and presented with symptomatic features during the first week of birth, which were identified by mass spectrometry. [ijn.mums.ac.ir]

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

• Swelling

  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]

• Encephalopathy

  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]

• Hyperactivity

  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]

• Dystonia

  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]

• Somnolence

  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]

  A 6-year-old previously healthy Caucasian male presented with confusion and somnolence. He had several days of [herbal-organic.com]

• Reduced Consciousness

  METHODS One hundred and fifty-eight childhood A 9-year-old boy presented with a 2-day history of vomiting, ataxia and reduced consciousness. [herbal-organic.com]

Only samples with both increased total leucine and increased alloisoleucine would lead to further metabolic workup. This approach appears promising for further reducing false-positive rates. [clinchem.aaccjnls.org]

A new metabolic workup was ordered, showing similar results. [pediatrics.aappublications.org]

Biochemical workup MSUD in a newborn may be suspected due to the presence of illness and/or an abnormal neonatal screening test result. [dovepress.com]

Without treatment, coma and central respiratory failure occur by days 7 to 10. [orpha.net]

Measurement of plasma leucine concentrations by amino acid analysis clearly differentiates between classic and variant MSUD, which is important for choosing the proper treatment. [clinchem.aaccjnls.org]

Early diagnosis and neonatal screening are recommended for the accurate and effective treatment of this disease Keywords BCKD deficiency ; DNA mutational analysis ; Maple syrup urine disease Statistics Article View: 503 PDF Download: 673 [ijn.mums.ac.ir]

Pediatr Neurol 20:289–294 PubMed CrossRef Google Scholar Zinnanti WJ, Lazovic J, Griffin K et al (2009) Dual mechanism of brain injury and novel treatment strategy in maple syrup urine disease. [link.springer.com]

Prognosis Prognosis is good for those who are diagnosed early, treated promptly and who follow a strict lifelong diet. The documents contained in this web site are presented for information purposes only. [orpha.net]

Diagnosis - Maple syrup urine disease Prognosis - Maple syrup urine disease This disease can be life threatening if untreated. Even with dietary treatment, stressful situations and illness can still cause high levels of certain amino acids. [checkorphan.org]

[…] exhibit high diffusion signal MR spectroscopy: single-voxel proton MR spectroscopy may show the presence of branched-chain amino acids and branched-chain alpha-keto acids resonating at 0.9-1.0 ppm, especially during a metabolic crisis 1,2 Treatment and prognosis [radiopaedia.org]

What is the prognosis? With treatment before any crises occur, lifetime adherence to the diet, and prompt treatment of illnesses, prognosis is good, and normal development and IQ are expected. [medicalhomeportal.org]

Etiology MSUD is due to mutations in genes encoding 3 of the 4 subunits of the branched chain 2-ketoacid dehydrogenase (BCKAD) complex. [orpha.net]

This article presents the results of biochemical and molecular analyses and metabolic response to treatment procedures in a 10-week old boy presenting with vomiting, progressive OBJECTIVE To investigate the values of tandem mass spectrometry (MS/MS) in etiologic [herbal-organic.com]

Oltarzewski-M; Lenartowska-I Evaluation of the usefulness for neonatal mass screening in light of 35 years personal experience Med-Wieku-Rozwoj. 1999 Oct-Dec; 3(4): 529-59 Lebo-RV; Shapiro-LR; Fenerci-EY; Hoover-JM; Chuang-JL; Chuang-DT; Kronn-DF Rare etiology [malattierare.regione.veneto.it]

Summary Epidemiology Birth prevalence of MSUD is estimated at around 1/150,000. Classic MSUD may account for 50-75% of cases. [orpha.net]

Molecular genetic testing of all three genes is available. [ 2 ] Epidemiology [ 1 ] Worldwide, MSUD occurs in about 1 case per 185,000 live births. [patient.info]

GENES EPIDEMIOLOGY Maple syrup urine disease occurs in about 1 per 180,000 live births and affects both males and females. [flipper.diff.org]

Amino acid deficiency can be detected through fetal growth, making it essential to monitor development closely. [6] Epidemiology [ edit ] Maple syrup urine disease (MSUD) is a rare, inherited metabolic disorder. [en.wikipedia.org]

Clinical observations and the review of the literature regarding WE and MSUD pathophysiology prompted us to hypothesize a pathogenic link between these two disorders. [link.springer.com]

Useful For Suggests clinical disorders or settings where the test may be helpful Follow-up of patients with maple syrup urine disease Monitoring of dietary compliance for patients with maple syrup urine disease Clinical Information Discusses physiology, pathophysiology [mayomedicallaboratories.com]

Pathophysiology Catabolic stress such as normal perinatal catabolism or an acute illness (e.g. infection, injury, surgery, febrile illness) produces endogenous protein breakdown leading to increase in the BCAA and related branched chain ketoacids. [newenglandconsortium.org]

Pathophysiology of brain disease in MSDU Figure Leucine and aKIC cause a complex neurochemical syndrome that disturbs brain protein accretion, neurotransmitter synthesis, cell volume regulation, neuron growth, and myelin synthesis. [flipper.diff.org]

Pathophysiology of MSUD MSUD is a metabolic disorder caused by decreased function of the BCKAD enzyme complex. [dovepress.com]

• Novel therapies investigated include hepatocyte transplantation, drugs to counter oxidative stress, norleucine, and phenylbutyrate to prevent the inactivation of the dehydrogenase complex. [medlink.com]

XENical in the prevention of diabetes in obese subjects (XENDOS) study: a randomized study of orlistat as an adjunct to lifestyle changes for the prevention of type 2 diabetes in obese patients. Diabetes Care 2004: 27(1):155-161. ‎ [books.google.es]

Identifying the presence of MSUD at birth is critical to preventing long-term damage. [healthline.com]

Instead, the newborn’s urine is analyzed for levels of branched-chain alpha-hydroxyacids and alpha-ketoacids. [6] Prevention [ edit ] There are no methods for preventing the manifestation of the pathology of MSUD in infants with two defective copies of [en.wikipedia.org]

This treatment must begin very early to prevent brain damage. Babies with the disease must eat a special formula that does not contain the amino acids leucine, isoleucine, and valine. [medigoo.com]