The diagnosis and management of propionic acidemia.
March 1990-September 2004 Total Newborns Screened 835 217 Disease # of cases Congenital Hypothyroidism 259 Phenylketonuria 18 Maple Syrup Disease 20 Congenital Adrenal Hyperplasia * 30 Galactosemia 10 Propionic Acidemia ** 3 Medium Chain Acyl-CoA Dehydrogenase Deficiency ** 2 Total 342 * Pilot Study 1999-2000.
The associated inborn errors of metabolism include PCC defects that cause propionic acidemia.
Methylcitrate and 3-hydroxy propionate, additional markers of propionic acidemia, were absent from urine organic acids, effectively ruling out defects in PCC.
Experts on propionic acidemia
say that Bailey's outcome would have been quite different if she had not been injured in the first month of life by her high ammonia levels.
The usefulness of the proposed method in giving a conclusive diagnosis for methylmalonic acidemia was assessed by a blinded retrospective study on DBS samples (n = 100) from known patients with methylmalonic acidemia (n = 33) or propionic acidemia
(n = 33).
Carnitine enhances excretion of propionyl coenzyme A as propionylcarnitine in propionic acidemia
We also tested urine from nine patients with propionic acidemia
(PA), METHYLMALONIC ACIDEMIA (MMA), AND MULTIPLE CARBOXYLASE DEFICIENCY (MCD)
Fifteen patients with urea cycle disorders and 1 with propionic acidemia
treated with one or more of these medications were tested using this method.
Some disorders, such as propionic acidemia
, methylmalonic acidemia, pyroglutamic acidemia, and glutaric acidemia, can be reliably diagnosed from organic acid excretions because of the consistently high increases of characteristic acids.
The latter cases have been associated with a variety of conditions and disorders: urea cycle disorders ; propionic acidemia
; hawkinsinuria 16]; Stevens-Johnson syndrome and severe burns ; homocystinuria ; pre-maturity ; glycine deficiency ; patients on artificial diets ; and drug treatment with acetaminophen (paracetamol)  and vigabatrin .