Question

The Patient:

Mathew Miller is a 7-day-old infant that is rushed to the emergency room by his parents Emma and Jacob Miller, Mennonites from Lancaster County, PA. Emma’s pregnancy and delivery with Mathew was normal but he started having trouble nursing and now has completely stopped feeding. By the time they reach the emergency room Mathew’s limbs were rigid and he had had a seizure.

The initial examination showed no infection and his x-rays were normal. The family history collected by the Doctor revealed that Emma and Jacob had had a previous son, Samuel that died at 9 days-of-age. There also is a history of unexplained childhood mortality on both sides of the family; Emma’s mother had two sisters who died in the first year of their lives and Jacob’s father had a sister who died at 7 months of age. Emma also points out to the Doctor that Mathew’s diaper has a funny smell to it. Blood and urine samples were taken for testing and skin biopsies from Mathew, Emma, and Jacob were taken and tested for enzyme activity. The tests results showed that:

• Mathew’s urine had elevated levels of the branched chain amino acids and their α-keto acid derivatives (which caused the sweet smell in his diapers)
• Both Emma and Jacob’s skin biopsies had nearly normal levels of branched 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.         Diabetes mellitus

C.         Maple syrup urine disease

D.         Phenylketonuria

Answer 1

C.Maple syrup urine disease.

By analysing the test reports, it is clear that Mathew miller have the Maple syrup urine disease(MSUD). It is because, this has similarities with the symptoms of MUSD. MUSD is the inherited metabolic disorders and makes unable to break down the amino acid as enzyem activity has decreased.In this disease, body lacks the enzyme called branched cahin alpha keto acid dehydrogenase that causes increase in branched chain amino acids and alpha keto acid derivative.As a effect of this ,the distinct maple sugar smell in ear wax,sweat and urine.At times, it also causes muscle rigidity nad neurological disorders such as Seizures.

Where as Ariginnemia is autosomal recessive urea cycle disorder and has increased arginine and ammonia in blood due to lack of arginase enzyme. The Phenylketonuria is the inborn error of metabolism ,has decreases metabolism of amino acid phenylalanine.Diabetes mellitus is the metabolic disorders causes high blood sugar.