Isovaleric Acidemia

A 12 July 2005 Wall Street Journal article, "Newborn Medical Screening Expands", gave a short description of a child's illness:

When her 7-year-old son S was 3½, he became extremely sick and was diagnosed with isovaleric acidemia, a metabolic disorder. The state doesn't require newborns to be tested for the condition. Today, S uses a wheelchair and gastronomic tube and has frequent seizures. He has difficulty lifting his head and rolling over.

Little detail is given in the Wall Street Journal article, but more detail about S is given in a description written by his father on the Save Babies Through Screening Foundation web site:

On May 29th, S was having a bout with a little virus. Some vomiting, but nothing more. Seemed normal, nothing to get too alarmed over. He finally went to sleep that night for good around 2:00 AM. When my wife went to wake him the next morning around 9 AM, she found a completely non-responsive boy. We immediately called our pediatrician who recommended an immediate trip to the hospital. 

When we got to the hospital, the Doctor's there, after getting initial readings on his glucose and oxygen levels became very concerned. We explained to them that something similar to this happened 2 years ago, but then after a night of IV fluids for his dehydration, he came out of it and was okay.

The next day, when they were preparing S to go for a brain MRI, he went into the first of several seizures.

The virus apparently burned up the protein his body did have stored, and created a very acidic child.

Clicking here shows the differential diagnosis in SimulConsult Diagnostic Decision Support with all the information included.  Isovaleric acidemia is one of the leading diagnoses.  The diagnosis of this very treatable disease was made days after the events described here, but before the diagnosis was made, "he ""crashed" on us and the Doctors said he was nearly declared "brain-dead" on the spot".   

As described in the Wall Street Journal article and the Foundation article, wider neonatal screening for isovaleric acidemia would catch more cases in time to institute preventive treatment so these children could have relatively normal lives.  But using diagnostic software can also help make a diagnosis rapidly enough to save lives by instituting appropriate medical treatment.

The Save Babies Through Screening Foundation has more family stories here.

Registration is required to click into the software because access to the software is restricted for legal reasons to medical professionals and students.

If you know of interesting cases in the news, in journals or on open Web sites of hospitals or foundations, please contact us and include enough information for us to find the material. The differential diagnosis will change over time as people mull over the case and submit new information to the database about findings in the relevant diseases.