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]

The presenting symptoms and clinical course of 2 cases of intermittent maple syrup urine disease (MSUD) are described. [ncbi.nlm.nih.gov]

A monthly at Univ Of Colorado on September 25, 2014pediatrics.aappublications.orgDownloaded from at Univ Of Colorado on September 25, 2014pediatrics.aappublications.orgDownloaded from Maple Syrup Urine Disease: Two CaseReportsabstractThe presenting symptoms [docslide.com.br]

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]

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]

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]

Workup of such patients includes measuring plasma amino acids and looking for succinylacetone on urine organic acid analysis. [genico.ch]

Management and treatment Patients with intermittent MSUD tolerate a normal intake of leucine and treatment is not necessary. [orpha.net]

Funds are needed for genetics research, diet, related behaviors and on-going studies for improved treatment. Make a Donation Physician Network Help introduce your primary professionals. [msud-support.org]

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

TREATMENT When the condition is diagnosed and during episodes, treatment involves eating a protein-free diet and correction of the metabolic consequences of the elevated amino acid levels. [secure.ssa.gov]

Prognosis The prognosis is good if metabolic control is maintained during times of stress and any episodes of acute decompensation are immediately treated. The documents contained in this web site are presented for information purposes only. [orpha.net]

[…] 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]

Outlook (Prognosis) 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. Death may occur during these episodes. [dxline.info]

What is the prognosis for a person with Maple Syrup Urine Disease Type 1B? With early, careful, and lifelong treatment, people with MSUD type 1B can live healthy lives into adulthood and show normal growth and mental development. [counsyl.com]

In 183 short chapters, the book provides the essentials clinicians need on symptoms/signs, diagnostic tests, and neurologic disorders of all etiologies. For this edition, Timothy A. [books.google.com]

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]

The etiology in 70 to 80% of the non-familial cases is unknown. [genico.ch]

[…] deficiency - Intermittent MSUD - Intermittent branched-chain 2-ketoacid dehydrogenase deficiency Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease Classification (ICD10): - Endocrine, nutritional and metabolic diseases - Epidemiological [csbg.cnb.csic.es]

Summary Epidemiology MSUD has an estimated incidence of 1/150,000 live births. There is no data to suggest what number of patients has intermittent MSUD but it is probably underdiagnosed. [orpha.net]

Specific mutation Epidemiology 25 year-old female: Treated for MSUD Onset Age: Young adult Course: Over days Clinical Weakness Legs Arms Symmetric Severe Tendon reflexes: Reduced or Absent Sensory Loss: Pan-modal Pain: Later in course Cranial nerves: [neuromuscular.wustl.edu]

Screening for five prevalent mutations of SLC25A13 gene in Guangdong‚ China: A molecular epidemiologic survey of citrin deficiency. [ped.med.tohoku.ac.jp]

[…] of congenital insensitivity to pain with anhidrosis 2015 Neurobiology of pain and emotional response: lessons from the molecular pathophysiology of congenital insensitivity to pain with anhidrosis 2015 Congenital insensitivity to pain with anhidrosis [researchmap.jp]

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]

The pathophysiology of MSUD revolves around relative deficiency or absolute lack of enzyme that are collectively referred to as branched-chain alpha-ketoacid dehydrogenase complex (or BCKAD). [drelist.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]

Dysarthria; Tremor Extrapyramidal: Athetosis; Dystonia Dementia Systemic features Liver Disease Hemolytic Anemia Treatment: Penicillamine A-β-lipoproteinemia (ABL) Microsomal Triglyceride Transfer Protein, large polypeptide (MTP) ; Chromosome 4q23 Pathophysiology [neuromuscular.wustl.edu]

The early detection of this rare disorder is important since control of branched chain amino acid intake may control metabolic abnormalities and prevent neurological damage. [ncbi.nlm.nih.gov]

Patients with increased BCAA levels often present with encephalopathy and require dialysis or haemofiltration to prevent brain damage. In this case haemofiltration was a preventative treatment of acute decompensation during the procedure. [raredisorders.imedpub.com]

A diet with minimal levels of the amino acids leucine, isoleucine, and valine must be maintained in order to prevent neurological damage. [welltellme.com]

Prevention Genetic counseling is suggested for people who want to have children and who have a family history of maple syrup urine disease. Many states now screen all newborns with blood tests for MSUD. [dxline.info]

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