maple syrup urine disease brittany taylor rebecca linstead
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MAPLE SYRUP URINE DISEASE
Brittany Taylor
Rebecca Linstead
Overview of Disorder
The body is unable to process leucine, isoleucine and valine because at least one of the four genes that code for the enzyme responsible for breaking down these amino acids has a mutation.
Four Forms of MSUD
Enzyme activity = <2% Classic neonatal form:
Most common; most severe Absence or significant decrease in function
of the enzyme branched-chain ketoacid dehydrogenase, which is needed to break down the branched-chain amino acids
Infants don’t show symptoms until days four to seven of life
Intermediate Form
Enzyme activity = 3-30% A higher level of enzyme is present than
in the classical form, therefore allowing a higher tolerance of leucine
Management is the same in both intermediate and classical forms of MSUD
Intermittent Form
Enzyme activity = 5-20% Mild form of MSUD Greater amount of enzyme activity is
present An affected child will not show
symptoms until around 12-24 months of age
Symptoms are usually brought on by a surge in protein intake or illness
Thiamine-Responsive Form
Enzyme activity = 2-40% Most rare form A child with this form may take large
doses of thiamine to increase their enzyme activity
Diagnosis
Suspect of MSUD results from the characteristic odor of maple syrup in the urine
Confirmed diagnosis with abnormal amounts of keto acids and amino acids in blood and urine
Serum alanine levels may also be depressed
Genetic Inheritance
Autosomal recessive Each parent carries one normal copy and
one mutated copy of the gene but does not show symptoms themselves
Signs and Symptoms
Poor appetite Irritability Maple smelling
urine Mental
retardation Seizures Coma and death
if left untreated
Infants will… Lose their sucking
reflex Become limp with
episodes of rigidity
Incidence
In the US = 1 in 185,000 births The Mennonite population in Lebanon
and Lancaster counties of Pennsylvania have an incidence of 1 in 176 newborns Founder’s effect?
Prognosis
Overall very poor if left undetected/untreated
With treatment and proper dietary management, the prognosis is good
However, severe stress and illness can cause a surge of certain amino acids
Medical Management of MSUD Long-term management via diet
Restriction of leucine, isoleucine and valine
Treatment of acute metabolic decompensation
Liver transplant may be an option but is associated with other consequences (transplant mediations for life)
Goal of Nutritional Management
Ultimate goal is to restrict branched-chain amino acids while avoiding impairment of growth and intellectual development Maintain normal levels of branched-chain
amino acids, particularly leucine
General Nutritional Management
Lifelong nutrition support via formulas and foods with minimal (if any) branched-chain amino acids
Leucine intake is carefully monitored and calculated following the measurement of plasma branched-chain amino acids
Nutritional Management during Acute Illness
Situational stress and illness may result in metabolic decompensation Initiate IV glucose to promote anabolism Stop intake of branched-chain amino acids;
resume when levels normalize If possible, continue additional dietary
support including lipids and formulas free of branched-chain amino acids
Hemodialysis may be necessary to remove toxic metabolites
Supplements, Formulas and Medications
Powdered protein supplements that are similar to whey protein Leucine, isoleucine and valine removed Major source of protein for patient
Ketonex makes an infant formula in powdered and liquid forms that are suitable for infants with MSUD
No medications available for specific treatment of MSUD Isoleucine and valine may be supplemented back
into diet
Case Study
Anthropometrics: Born full term Born 7 lb 3 oz, 19 inches Age: 3 years, 1 month Height: 94 cm (37 in) 50th percentile Weight: 14.3 kg (31.5 lb) 50th percentile Length for weight: 75-90th percentile Growth patterns have been consistently
normal
Family and Social History
Patient lives with mother, step father, two older sisters (13 and 14 years of age) and three step-siblings (14 y/o male, two 12 y/o females)
Family receives WIC services and had an appointment scheduled with Early Intervention as of last visit
Insurance coverage through Medicaid; Children’s Special Services provides low protein foods and helps cover medical expenses if not covered by Medicaid
Family and Social History
Family seems to care for patient very well Dad is literate and understands ROSS
Family Guide booklet as well as need for diet changes
Feeds patient through G-tube Mother attends G-tube clinic and changes is G-
tube Grandparents assist in care
Patient is enrolled in HeadStart Receptive language increasing; says
approximately six words
Prenatal History
Normal Pregnancy! Prenatal vitamin and iron supplement Visited doctor regularly Gained 30 lbs No family hx of DM, heart disease or food
allergies
Health History
Had problems with poor suckling and electrolyte imbalances Received breast milk and Ketonex via NG tube
due to his poor suck Initiated thickened liquids and some solid foods
but was not obtaining enough nutrients PEG tube was placed to provide patient with
nutrients due to dysphagia As of most recent visit, mother reports dysphagia
has resolved but no notation of latest swallow test; patient now with some PO intake but still with EN via PEG
Health History (cont)
No food allergies 8 teeth on both top and bottom row Current medications: isoleucine and
valine No mention of smoking or alcohol abuse
in home Activity level: cannot ride a tricycle; is
able to partially dress himself; goes up and down the stairs;
No lifestyle modifications needed at this time as patient is at appropriate height and weight
Feeding Skills and Behavior
Will feed himself with his fingers but will not use a fork or spoon – there may be some fine-motor delay; may also have a language delay
Has full range of motion Parenting skills are good
Advanced formula preparation
Eating Habits
Good appetite Eating more solid foods but is still
dependent on PEG tube Enjoys cereal, oatmeal and pizza
Present Intake
Last food record: Captain Crunch, Kool-aide, chicken nuggets,
fruit roll-up, apple juice, grape soda, cheese pizza, oatmeal
Evaluation of intake: 100% of kcal, 402% of protein, 148% of
CHO Isoleucine: 326 mg (165-325
mg/day)100% Leucine: 593 mg (275-535 mg/day)111% Valine: 396 (190-400 mg/day) 100%
Biochemical Information
Most recent data: Prealbumin: 18 mg/dl Glucose: 68 mg/dl Bicarb: 28 mEq/L
All normal!
Findings
ICD-9 Codes 270.3= MSUD V44.1= G-Tube
Inadequate oral intake related to dysphagia and feeding difficulties as evidenced by majority of nutritional needs met through enteral feedings
Altered nutrient utilization related to inborn error of metabolism-MSUD as evidenced by hx of elevated leucine with restrictions needed to keep within range
Recommendations
Continue with current regimen of 125 g of Ketonex-1, 55 g of Ketonex-2 and 32 g of Good Start, 3 ml of isoleucine and 6 ml of valine with water to total 40 ounces
Administer 5-8oz feedings throughout the day into PEG tube
Encourage low protein PO intake
Presenting Information to Family No barriers noted in chart regarding
literacy or ability to care for patient All their ducks are in a row
Role of MNT
Rationale for recommendations: Dietary restrictions will limit branched-chain
amino acids, specifically leucine Prevention of toxic build-up of these amino
acids and their metabolites Enteral nutrition continued as we are
unsure of dysphagia status and patient still has difficulty feeding himself
Maintain adequate calorie and protein intake to promote growth
Role of RD
To provide family and patient with support and recommendations regarding MNT
To modify the diet as needed to keep amino acids within target ranges
To act as a resource
References
http://ghr.nlm.nih.gov/condition/maple-syrup-urine-disease http://onlinelibrary.wiley.com/doi/10.1111/j.1365-2044.1996.tb12568.x/pdf http://emedicine.medscape.com/article/946234-medication#2 http://newenglandconsortium.org/for-professionals/acute-illness-protocols/
organic-acid-disorders/maple-syrup-urine-disease-msud http://www.wvdhhr.org/nbms/diseases/Maple_Syrup_Urine_Disease.asp http://www.uic.edu/classes/phar/phar332/Clinical_Cases/aa%20metab%20
cases/MSUD/Diagnostics_of_MSUD.html http://www.newbornscreening.info/Parents/aminoaciddisorders/MSUD.html
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