Disease Information for Maple syrup urine disease

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Clinical Manifestations
Signs & Symptoms
Anorexia in Infant
Failure to Thrive
Failure to Thrive Child
Failure to thrive/infant sign
Feeding/Apetite Problems Child
Poor feeding/infant
Hypertonia
Active reflexes
Ataxia
Awkward Uncoordinated Child
Coma/infant or newborn
Hypereactive Child
Hypereactive/on exam
Hyperreflexia/DTRs increased
Infant Seizures
Lethargy/torpor
Limb Ataxia
Limb ataxia/clumsiness child
Mental Deficiency Child
Mental/motor retardation in children/signs
Neurologic manifestations/signs
Seizures
Seizures/Children/recurrent
Staggering Gait
Stiff neck/Nuchal rigidity
Unconscious/Narcosis status
Hyperactivity, child/signs
Psychomotor retardation
Short attention span
Macrocephaly/Large head
Megalocephaly
Short stature
Short stature Child
Clinical Presentation & Variations
Presentation/Death in infancy
Presentation/Opisthotonus Persistent Infant
Disease Progression
Course/Chronic only
Demographics & Risk Factors
Ethnic or Racial Factors
Amish population
Population Group
Child
Population/Pediatrics population
Family History
Family history/Metabolic disease
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured)
DNATest specific/genetics laboratory/abnormality (Lab)
Enzyme Assay plasma/tissue/fibroblast abnormal
Fasting hypoglycemia (Lab)
Neonatal metabolic screening (mass spec) abnormal
Newborn screening tests abnormal (extended)
URINE Particular Odor
Abnormal Lab Findings - Decreased
Glucose, blood (Lab)
Abnormal Lab Findings - Increased
Alanine, serum (Lab)
Amino acids serum (Lab)
Isoleucine (Lab)
Leucine (Lab)
Valine (Lab)
URINE Amino acids
URINE Isoleucine
URINE Leucine
Diagnostic Test Results
Other Tests & Procedures
Amniocentesis/Abnormality
Amniocentesis/Prenatal enzyme assay/abnormal
Lumbar puncture/Increased CSF pressure/LP test
Associated Diseases & Rule outs
Rule Outs
Phenylketonuria
Associated Disease & Complications
Basal gangion lesion/secondary
Coma in Children
Coma/Unconscious
Convulsions (grand mal)
Death Newborn/Perinatal
Hypoglycemia
Hypoglycemia, infantile
Maple Syrup Urine Disease
Mental retardation
Ataxia Disorder
Disease Synergy - Causes
Synergy/General stress
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Renal/kidney involvement/disorder (ex)
Pathophysiology
Pathophysiology/Gene locus 7q31-q32
Pathophysiology/Gene locus Chromosome 7
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/CSF Pressure Increased
Pathophysiology/Hereditary disease renal effect
Pathophysiology/Gene locus Chromosome 7q
Process
PROCESS/Aminoacid metabolic disorder (ex)
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Two/multiple subsets/disease pattern
PROCESS/Variant expressions/Subsets (ex)
Synonyms
Synonym
BCKD Branched chain alpha ketoacid dehydrogenase deficiency, BCKD Branched chain alphaketoacid dehydrogenase deficiency, BCKD Br ch a ketoac dehydr def, BCKD deficiency, Branch chain ketoac dehydr def, BRANCHED CHAIN ALPHA KETO ACID DEHYDROGENASE DEFICIENCY, Branched chain ketoacid dehydrogenase deficiency, Branched Chain Ketoaciduria, Branched Chain Ketoacidurias, BRANCHED CHAIN KETONURIA, disease (or disorder) maple syrup urine, disease maple syrup urine, KETO ACID DECARBOXYLASE DEFICIENCY, Ketoacid decarboxylase defic, Ketoacid decarboxylase deficiency, Ketoacidaemia, Ketoacidemia, Ketoaciduria Branched Chain, Ketoacidurias Branched Chain, Maple syrup disease, MAPLE SYRUP URINE DIS, Maple syrup urine disease, Maple syrup urine disease (disorder), maple syrup urine syndrome, MSU, MSUD, MSUD Maple syrup urine disease, MSUD (Maple Syrup Urine Disease), MSUD MAPLE SYRUP URINE DIS, MSUD Maple syrup urine disease, Oxo acid decarboxylase defic, Oxo acid decarboxylase deficiency, syndrome maple syrup urine, Synonym/Branched chain ketonuria syndrome
Treatment
Drug Therapy - Indication
RX/Thiamine
Other Treatments
TX/Hemodialysis.
TX/Low protein diet
TX/Specific diet/avoidance
Definition

An autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain ammino acids (AMINO ACIDS, BRANCHED-CHAIN); These metabolites accumulate in body fluids and render a "maple syrup" odor; The disease is divided into classic, intermediate, intermittent, and thiamine responsive subtypes; 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; (From Adams et al, Principles of Neurology)

Maple Syrup Urine Disease; BCKD Deficiency; Branched Chain Alpha-Ketoacid Dehydrogenase Deficiency; Branched Chain Ketonuria I; Classical Maple Syrup Urine Disease; MSUD; ; variants subtypes: Classic Maple Syrup Urine Disease;Intermediate Maple Syrup Urine Disease; Intermittent Maple Syrup Urine Disease; Thiamine-Responsive Maple Syrup Urine Disease; Maple Syrup Urine Disease (MSUD) is an extremely rare inherited metabolic disorder characterized by a distinctive sweet odor of the urine and sweat; It is a serious disorder that, unless treated promptly and correctly, can be life threatening; Therapy must be started at the earliest possible age to achieve the best results. MSUD is manageable, just as diabetes is manageable, but care and attention must be given to diet and to the treatment of even minor illnesses; Symptoms develop because the body is unable to break down (metabolize) three of the essential amino acids, leucine, isoleucine, and valine; They are essential because they are used by the body to build proteins, and they are three of 11 amino acids that must be obtained as part of the daily diet since the body cannot synthesize them; These three amino acids are branched chain amino acids (BCAAs); An affected newborn will present with abnormally high concentrations of acidic metabolic by-products of the BCAAs in the blood and other tissues (metabolic acidosis) that, if left untreated, may lead to seizures or coma, and may be life-threatening; Genetically, there appear to be three forms of the disorder: IA, IB, and II; Clinically, at least four forms are described, to which some clinicians add a fifth; [NORD]

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Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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