Patient 1 – Angelo – CASE FILE

Day 2 – Bloodwork and Background (12/10 or 12/11)
Information from day 2 can be found here
Genetic questions for you to answer can be found here (due Monday 12/14)

So far, our diagnosis board looks like this:

PROPIONIC ACIDEMIA
(http://ghr.nlm.nih.gov/condition/propionic-acidemia )
(http://emedicine.medscape.com/article/1161910-overview#a3)

This condition fits the symptoms because:

  • It is an inherited disorder
  • It leads to a buildup of acids in the blood
  • Symptoms start in the first days of birth, and include poor feeding, vomiting, appetite loss, lethargy, and weak muscle tone.

In order to look for Propionic Acidemia, we will perform these tests:

  • Perform a DNA test for the mutation that causes it.
  • Perform a urinalysis to look for amino acids/organic acids

MAPLE SYRUP URINE DISEASE (MSUD)
(http://ghr.nlm.nih.gov/condition/maple-syrup-urine-disease)
(http://www.healthline.com/health/maple-syrup-urine-disease#Overview1 )

This condition fits the symptoms because:

  • It is an inherited disorder
  • It leads to an abnormally high level of leucine in the blood (and other plasma amino acids)
  • It leads to ketosis (buildup of ketones in urine)
  • Symptoms start in first days of brith and include avoiding food, coma, feeding difficulties, lethargy, seizures, urine smelling like syrup
  • The family are Mennonnites

In order to test for Maple Syrup Urine

  • Perform a urinalysis for amino acids in urine
  • Perform a DNA test for the mutation that causes it

Day 1 – Introduction (12/8 or 12/9)
Information from day 1 can be found here
Intro questions for you to answer can be found here (due 12/10 or 12/11)

The diagnostic team is requesting the following information in order to make a diagnosis.

  • Tests to order:
    • Blood tests for Angelo
    • Blood tests for parents
    • DNA tests (for baby Angelo, for parents)
    • Biopsy of bones
    • Biopsy of lungs
    • MRI of lungs
    • MRI of brain
    • CT scan of brain
    • EEGs for brain activity
    • Swab saliva to look for toxins
    • Sample of breast milk to look for toxins
    • GI tract contents analyzed
  • Questions to ask the family:
    • Description of mother’s diet (honey? sweets?)
    • Description of baby’s diet (honey? sweets?)
    • Details about the previous child
    • Autopsy report on previous child / possible DNA sample
    • Background (race, religion)
    • More detailed family medical history
  • Questions to ask the doctors: 
    • Look for breathing issues / measure blood oxygenation
    • Look for unusual muscle actions / posture in baby
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10 thoughts on “Patient 1 – Angelo – CASE FILE

  1. I firmly believe that the patient(Angelo) has MSUD. despite both issues looking nearly identical even at a long look, the irrefutable evidence is found with in the genetic code. the patient has a mutation in the there genetics labeled BCKDHA, a similar receive gene mutation was found giving the same results but the tests from the patent did not match. leaving the only possible disorder to be MSUD.

  2. I, Jack Cameron, believe, despite my previous classmates submissions and prognosis, that Angelo has Propionic Acidemia. This is due to the diseases recessive gene and I just believe.

  3. I think Angelo’s diagnosis is MSUD because the DNA test showed that Angelo’s tested positive for BCKDHA gene, and MSUD is related to MSUD

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