The Patient:
Mathew Miller is a 7-day-old infant that is rushed to theemergency room by his parents Emma and Jacob Miller, Mennonitesfrom Lancaster County, PA. Emma’s pregnancy and delivery withMathew was normal but he started having trouble nursing and now hascompletely stopped feeding. By the time they reach the emergencyroom Mathew’s limbs were rigid and he had had a seizure.
The initial examination showed no infection and his x-rays werenormal. The family history collected by the Doctor revealed thatEmma and Jacob had had a previous son, Samuel that died at 9days-of-age. There also is a history of unexplained childhoodmortality on both sides of the family; Emma’s mother had twosisters who died in the first year of their lives and Jacob’sfather had a sister who died at 7 months of age. Emma also pointsout to the Doctor that Mathew’s diaper has a funny smell to it.Blood and urine samples were taken for testing and skin biopsiesfrom Mathew, Emma, and Jacob were taken and tested for enzymeactivity. The tests results showed that:
- Mathew’s urine had elevated levels of the branched chain aminoacids and their α-keto acid derivatives (which caused the sweetsmell in his diapers)
- Both Emma and Jacob’s skin biopsies had nearly normal levels ofbranched chain amino acid metabolism/enzyme activity
- Mathew’s enzyme activity was less than 2% of normal
Question 1:
What is the most likely diagnosis for Mathew?
A.        Argininemia
B.        Diabetesmellitus
C.        Maplesyrup urine disease
D.        Phenylketonuria
