Intermediate have the maple syrup odor to their urine and may also present with developmental delay and feeding problems in infancy. Oftentimes they are diagnosed with MSUD between 5 months and 7 years old, presenting with intellectual disability. [thinkgenetic.com]

METHODS 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 [herbal-organic.com]

The clinical presentation is very similar to that of intermediate maple syrup urine disease, with the exception of early-onset lactic acidosis. [emedicine.medscape.com]

May present with feeding problems, poor growth and developmental delay during infancy, or may present much later in life with learning difficulties. Usually diagnosed between ages 5 months and 7 years. [patient.info]

Overview Maple syrup urine disease is an inborn error of branched-chain ketoacid metabolism that presents classically with metabolic distress in newborns, although milder presentations exist. [medlink.com]

• Weight Loss

  Some of the initial symptoms of classic MSUD include irregular sleep patterns, lethargy, irritability, weight loss, poor appetite, and a distinctive maple sugar odor in earwax, sweat, and urine (which gives the disorder its name). [medicaldaily.com]

  Within several days, the infant will show poor feeding, vomiting, and irritability, followed by lack of energy, weight loss, seizures, a tense arched posture, muscle tone which alternates between stiff and limp, and swelling of the brain. [counsyl.com]

  These signs include: Poor appetite Trouble sucking during feeding Weight loss High pitched cry Urine that smells sweet like maple syrup or burnt sugar Sleeping longer or more often Tiredness Irritability Vomiting Developmental delays Many of these signs [babysfirsttest.org]

  Some symptoms of inherited metabolic disorders include: Lethargy Poor appetite Abdominal pain Vomiting Weight loss Jaundice Failure to gain weight or grow Developmental delay Seizures Coma Abnormal odor of urine, breath, sweat, or saliva The symptoms [webmd.com]

• 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]

• Weakness

  Glycogen storage diseases: Problems with sugar storage lead to low blood sugar levels, muscle pain, and weakness. Mitochondrial disorders: Problems inside mitochondria, the powerhouses of cells, lead to muscle damage. [webmd.com]

  Some initial symptoms characteristic of classic MSUD are: lethargy poor appetite weight loss weak sucking ability irritability a distinctive maple sugar odor in earwax, sweat, and urine irregular sleep patterns alternating episodes of hypertonia (muscle [healthline.com]

  Some of the first symptoms are: • poor appetite • weak suck • weight loss • high pitched cry • urine that smells like maple syrup or burnt sugar Babies with MSUD have episodes of illness called metabolic crisis. [flipper.diff.org]

  Some of the first symptoms are: poor appetite weak suck weight loss high pitched cry urine that smells like maple syrup or burnt sugar Babies with MSUD have episodes of illness called metabolic crisis. [newbornscreening.info]

• Epilepsy

  Epilepsy was considered, but no EEG was ordered. Three months later, the girl entered the hospital with similar but more severe symptoms after a 3-day history of fever with low food intake. [pediatrics.aappublications.org]

• Abdominal Pain

  Some symptoms of inherited metabolic disorders include: Lethargy Poor appetite Abdominal pain Vomiting Weight loss Jaundice Failure to gain weight or grow Developmental delay Seizures Coma Abnormal odor of urine, breath, sweat, or saliva The symptoms [webmd.com]

• Lethargy

  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]

  A diagnosis may be suspected based upon symptomatic findings (lethargy, failure to thrive, neurologic signs or, during a metabolic crisis, odor of maple syrup in earwax, sweat or urine ). [thezbfoundation.com]

  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]

  It is also characterized by poor feeding, vomiting, lack of energy (lethargy), abnormal movements, and delayed development. [icdlist.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]

  Key points • Inborn errors of metabolism should be suspected in newborns and infants with unexplained encephalopathies. • Soon after birth, maple syrup urine disease classically presents with an encephalopathy accompanied by abnormal movements such as [medlink.com]

• Ataxia

  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]

  The clinical picture was characterized by seizure-like episodes of confusion and intermittent ataxia. [herbal-organic.com]

  The intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting. [connects.catalyst.harvard.edu]

  Conclusions Intermittent MSUD is a potentially life-threatening metabolic disorder that should be suspected in cases of common infections with a clinically atypical course, especially in children displaying ataxia or marked drowsiness. [pediatrics.aappublications.org]

• 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]

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

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]

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]

• Hypoglycemia

  Abstract Extract : We are reporting a patient with classic, thiamine-unresponsive maple syrup urine disease (MSUD) associated with severe fasting hypoglycemia. [nature.com]

  The classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia. The intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting. [connects.catalyst.harvard.edu]

  It usually manifests itself within the first week of life with 8 : poor feeding vomiting ketoacidosis hypoglycemia lethargy seizures characteristic odor of maple syrup in the urine or cerumen Intermittent forms of the disease may present later (5 months [radiopaedia.org]

  Transient elevations of branched-chain amino acids (without the presence of alloisoleucine) may develop in patients with ketotic hypoglycemia and in patients in the postabsorptive state.Measure urine organic acids using gas chromatography-mass spectrometry [medigoo.com]

• Hyperammonemia

  Other disorders that may cause acute encephalopathy, such as viral and bacterial meningitis, drug toxicity, and overdose, as well as inherited disorders causing severe metabolic acidosis, lactic acidosis, and/or hyperammonemia must be considered. [clinicaladvisor.com]

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

Treatment of PKU and MSUD, is based on the restriction of the involved amino acids. Diet must begin very early in life in order to prevent neurological sequelae. [herbal-organic.com]

ACER-001 was granted orphan drug designation as a potential treatment for MSUD in 2014. [acertx.com]

Treatment: Treatment involves dietary restriction of the amino acids leucine, isoleucine, and valine. This treatment must begin very early to prevent brain damage. [medigoo.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]

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]

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

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]

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]

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]

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]

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

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]

Prompt treatment is needed to prevent intellectual disabilities and serious medical problems. Most children need to eat a very low-protein diet and drink a special medical formula. [newbornscreening.info]