Maple Syrup Urine Disease

Discussion Prompt

– Please evaluate the subjective and objective information provided to you in the file below.
– The first part of the discussion board is to identify all pertinent positive and negative information.
– Would there be any other information you would want to obtain?
– Then create a differential diagnosis list with at least 3 possibly actual diagnosis based on your findings.
– Second part is to create a plan utilizing clinical practice guidelines for the priority diagnosis.
– What state or federal resources are available to these parents?
– What health promotion recommendations may you want to consider?
Be sure to include APA in-text citations and provide full reference citation at the end of the discussion.

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Discussion Case

C.C. 3 day old checkup
HPI: Mother and Father present to clinic in Central Pennsylvania with their 3 day old son. 3 day old. M
was born at home at 38 weeks’ gestation. Since his birth mother has noticed poor feeding habits, very
few sweet smelling wet diapers and sleeping more. This was their 4 th home delivery, 3 living children
without any developmental or medical concerns. Have never experienced this behavior with their other
children who are now 5, 4, 1.
PMH: Born at 38 weeks’ gestation vaginally at home. There were no complications at birth. There were
no complications throughout the pregnancy. The infant’s mother denies tobacco use, drug use, or
alcohol use during pregnancy. The infant is breastfed. The siblings are not vaccinated.
Allergies: No known drug allergies
Medications: None
Social History: The infant lives with his mother, father, s iblings and maternal grandparents. Live on a
farm in Lancaster County. Mennonite. Mother stays at home with children and father works on the
family farm/wood mill . The infant is not exposed to tobacco
Family History: Mother and father deny any sig nificant medical history. Siblings have no significant
medical history and are not up to date on immunizations.
Review of Systems
General: Mother denies unexplained fevers. Concerned about increase sleep, weak suck and poor eating
Skin: The in fant’s mother denies any rash or lesions
Head: Mother denies any trauma/forceps used in birth
ENT: Mother denies any concerns with the infant’s ears, nose, or throat.
Neck: Mother denies any concerns with neck
CV: The infant’s mother denies any cyanotic spells or a discoloration of the skin
Lungs: The infant’s mother denies any cough, congestion, wheezing, or difficulty breathing.
GI: Mother reports 1 bowel movements per day, dark in color. Denies meconium during birth.
GU: Negative for dia per rash. Mother has reported decrease number of wet diapers and has noticed a
sweet odor when changing cloth diaper.
VS: Temperature: 99. 7 F, HR: 1 61 , RR: 52 Ht: 2 1 in , Wt.Wt.: 6 lbs, 4 .6 oz , HC: 46.1 cm
General: Appears lethargic, sunken eyes, pale skin Laying on table in “fencing” pose.
Skin: No evidence of rash or lesions.
Head: Normocephalic
Eyes: The lids and conjunctiva are normal. Pupils are irises are normal fundoscopic exam reveals red
reflex present bilaterally.
ENT: Normal external ears and nose. Normal external auditory canals and tympanic membranes. Tip of
otoscope sweet smell once removed from ear . Oropharynx: normal mucosa, palate, and posterior


Sample Answer


The patient is a 3day old baby who was delivered vaginally at home at 38 weeks gestation, presented to the clinic with a history of poor feeding habits, very sweet smelling wet diapers, and excessive sleeping. The mother reports having three other home deliveries with the children all alive and well and have never presented with this behavior. There were no pregnancy or birth complications. There was also no drug, tobacco, or alcohol exposure. The infant is breastfed, and none of the children is vaccinated. There is no history of chronic or familial diseases. The mother denies any unexplained fevers but is concerned about the poor feeding, weak suck, and increased sleep. The mother reports one bowel movement per day, dark in color, but denies meconium during delivery. No diaper rash was reported, but the mother noticed a decreased number of wet diapers with a sweet odor when changing diapers. All other systems were essentially normal, and there are no known allergies.

In the objective assessment, vital signs were within normal limits, and the child appeared lethargic with sunken eyes, pale skin, and fencing pose when lying on the table. In the ENT, there was a sweet smell on the otoscope after removal from the ear. The ear, nose, and throat were otherwise normal. The other head to toe examination findings were non-contributory. However, other relevant information that should have been elicited from the assessment include; irritability, high-pitched cry, vomiting, seizures, breathing difficulties, abnormal muscle movements, and muscle tone. According to Abi-Warde et al., (2017), a Mennonite background should also be inquired for because the disease is prevalent in the Pennsylvania population.

Differential diagnoses

  • Classic maple syrup urine disease (MSUD)
  • Severe infection
  • Hydroxyprolinemia
  • Hypoxic-ischemic encephalopathy


Admission of the patient and liaise with dietary team

Laboratory investigations will include;

  • Plasma amino acid test- elevated leucine, valine, and isoleucine, while other amino acids are expected to be reduced.
  • Urine analysis- dipstick will show ketonuria, while urine biochemistry will demonstrate elevation keto acids, and branched-chain amino acids (BCAA).
  • Enzyme analysis- analysis of leukocytes or skin cells for defective or absent enzymes
  • Molecular genetic testing- BCKDHA, BCKDHB gene mutations responsible for coding for defective enzymes (Blackburn et al., 2017). This is the confirmatory test.
  • Blood gases, renal and liver function tests, full blood count, and cultures to rule out other causes like an infection.


According to Strauss et al. (2020), the first line of treatment is dietary management. It is achieved by stopping breastfeeding and commencing the MSUD Anamix infant formula with isoleucine and valine supplements by oral or nasogastric tube. Promote anabolism by providing >120kcal/kg/day. Micronutrient intake should be ensured and supplemented if need be. Thiamine may be given if it is the thiamine-responsive type. Monitor BCAA levels frequently to adjust dietary requirements. Dialysis, hemofiltration, and liver transplantation should be considered in more severe cases.

Long term, the patient must remain on a protein restrictive diet for a lifetime.

State or federal resources

  • Routine screening of newborns by the State department of health newborn screening program for MSUD
  • Health insurance coverage
  • Emergency illness management protocols

Health promotion recommendations

According to Blackburn et al. (2017), the history of the disease should prompt a genetic consultation, especially if the parents are still trying to expand the family. Special strict protein-free diet to prevent metabolic attacks. Avoidance of stress, trauma, fasting, change of diet, and infection may precipitate a metabolic crisis (Abi-Wardé et al., 2017). Monitoring for symptoms of brain damage such as seizures, coma, and developmental delay.




Abi-Wardé, M. T., Roda, C., Arnoux, J. B., Servais, A., Habarou, F., Brassier, A., … & Chadefaux-Vekemans, B. (2017). Long-term metabolic follow-up and clinical outcome of 35 patients with maple syrup urine disease. Journal of inherited metabolic disease, 40(6), 783-792.

Blackburn, P. R., Gass, J. M., e Vairo, F. P., Farnham, K. M., Atwal, H. K., Macklin, S., … & Atwal, P. S. (2017). Maple syrup urine disease: mechanisms and management. The application of clinical genetics, 10, 57.

Strauss, K. A., Carson, V. J., Soltys, K., Young, M. E., Bowser, L. E., Puffenberger, E. G., … & Beiler, K. (2020). Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes. Molecular Genetics and Metabolism.

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