Patient 1
The patient is 6 months old. The patient is exhibiting the following symptoms:
The following tests need to be administered:
- failure to reach normal milestones (i.e. sitting up, grasping for objects)
- seizures
- tremors or jerky hand and leg movement
- stunted growth.
- red scaly patches on the skin
- musky smelling urine
The following tests need to be administered:
- Gel electrophoresis to rule out several suspected genetic causes.
- Chromosomal karyotyping to look for abnormalities and to confirm the gender of the patient.
- Blood type testing
- genetic pedigree