MEDICAL MANAGEMENT

The two main approaches to the treatment of maple syrup urine disease (MSUD) include
(1) long-term daily dietary management and (2) treatment of episodes of acute metabolic
decompensation.
The main treatment for MSUD is a low-protein diet with low levels
of the three amino acids. Babies with MSUD must be on a special
formula as soon as possible. Then, they'll follow the special diet for
the rest of their lives.

The acute crisis of metabolic imbalance in maple syrup urine

disease may be effectively treated by the continuous intragastric
drip of solutions of amino acids devoid of leucine along with
provision of water and calories intravenously.

Liver transplantation
Liver transplantation may also prove be a cost-
effective therapy for Maple Syrup Urine Disease
(MSUD) that may reduce the long-term cost associated
with medical care and treatment for acute metabolic
decompensation. Liver transplantation (LT) is a
therapeutic option for MSUD because the liver is
responsible for 9% to 13% of the body’s total BCKDH
production. Liver transplantation can restore BCAA
homeostasis and prevent long-term neurologic
consequences.3,4 Living donor liver transplantation (LDLT) is an option that is especially useful
in the pediatric population, where the shortage of size-matched donors is greater.

Diagnosis and Tests

In these cases, doctors diagnose MSUD with blood tests and by evaluating the child's symptoms,
including finding the distinctive sugar/maple smell of their sweat and urine. Genetic testing from
white cells in blood can now help confirm diagnosis and also help identify types of MSUD.

In MSUD, three amino acids — leucine, isoleucine, and valine — are not broken down. These
amino acids and their byproducts then build up in the blood, damaging the brain and other
organs.The test is performed within 24-48 hours following birth. Newborn screening for maple
syrup urine disease is performed with tandem mass spectrometry (MS/MS) using concentrations
of leucine and isoleucine and the Fisher ratio (branch-chain amino acids/phenylalanine and
tyrosine) as diagnostic measures.

Genetic testing
MSUD is caused by genetic variants in the BCKDHA, BCKDHB, or DBT genes. It is inherited
in an autosomal recessive pattern. Diagnosis of MSUD is based on the symptoms, clinical exam,
and blood and urine testing. MSUD is often diagnosed based on the results of a newborn
screening test.

Drug study

Laboratory Test result

 Result Remarks Normal values
Sodium 13.50 mmol/L 135-148
Potassium 3.25 mmol/L Low 3.5-5.3
Leukocytes 2
Urobilinogen 3.20
Platelet 590.00/L High 150-400
Hemoglobin 93.00g/L Low 120-160
MCV 76.10 FL Low 80.0-100.00
MCHC 30.10 g/L Low 31.0-37.0
RDW 22.00 % High 11.0-16.0
WBC count 13.6110 6/L High 4.00-12.00
Ph 7.382 7.35-7.45
PCO2 37.4 mmhg 35-45 mmhg
PO2 148.6 mgh 80-100 mmhg
HC03 22.2 mno/L 22-26

Nursing management
 Treatment must be started as soon as possible.
 Involves a complex approach to maintain metabolic control.
 Carefully controlled diet is the focus of daily treatment.
 Synthetic food that strictly controls the amino acids leucine, isoleucine and valine.
 Careful monitoring of protein intake.
 Infant will be given an MSUD formula such as Enfamil or Similac.
 Educate about the liver transplant is an optional treatment.
 Educate the family about the careful control of the diet to ensure the correct balance of
the amino acids levels is the best strategy for the optimal function of persons with
MSUD.
 MSUD is inherited in an autosomal recessive manner, so explain for the family what can
happen to their future offspring.

Prognosis

The client has a poor prognosis as he was not able to have early medical intervention which

triggers the disease.

Criteria Poor Fair Good Justification

 The rate is fair since the signs and

symptoms was seen afterbirth up to

Duration of
the present. Good thing is they seek
Condition
medical attention as soon as the

disease occurred.

The rate is poor because the patient is

experiencing the disease for 1 year

Onset of Condition
but is taking medication and

compliant.

Rated as poor because the client had

family history of MSUD specifically

Risk Factors
his cousin (Died with the same

problem).

The rate was good because MSUD

usually occurs between the ages of 5

Age
months and 7 years. Patient is 1 year

old.

Willingness to take Rated as good because the patient

the medication/ undergoes medication and is

Compliance with compliant with the milk that he needs

Therapeutic Regimen to drink.

The rate was good because the parent

was able to ask medical attention in

Family Support the early stage of the disease. Father

and mother is very hands on when it

comes to the care to the child.

Total 1 4 9 Criteria: Fair

Poor = 2; Fair = 1; TOTAL = 2

Good = 3
Scale interpretation

Poor (1 x 2 = 2)
Poor = 0 – 1.6

Fair (2 x 1 = 1)
Fair = 1.7 – 3.3

Good (3 x 3 = 9)
Good = 3.4 – 5

Score: 12/6 = 2

Implication: Patient has fair prognosis because he is compliant with his medication and
medical interventions with the help of his family.