Medical uses Sodium phenylbutyrate is taken orally or by
nasogastric intubation as a tablet or powder, and tastes very salty and bitter. It treats
urea cycle disorders, genetic diseases in which nitrogen waste builds up in the blood plasma as
ammonia glutamine (a state called
hyperammonemia) due to deficiences in the
enzymes
carbamoyl phosphate synthetase I,
ornithine transcarbamylase, or
argininosuccinic acid synthetase.
Adverse effects Nearly of women may experience an
adverse effect of
amenorrhea or menstrual dysfunction. In 1982 and 1984, the researchers published on using benzoate and arginine for urea cycle disorders in the
NEJM. Use of sodium phenylbutyrate was introduced in the early 1990s, as it lacks the odor of phenylacetate.
Chemical chaperone In
cystic fibrosis, a point mutation in the
Cystic Fibrosis Transmembrane Conductance Regulator protein, ΔF508-CFTR, causes it to be unstable and misfold, hence trapped in the endoplasmic reticulum and unable to reach the cell membrane. This lack of CFTR in the cell membrane leads to disrupted chloride transport and the symptoms of cystic fibrosis. Sodium phenylbutyrate can act as a
chemical chaperone, stabilising the mutant CFTR in the endoplasmic reticulum and allowing it to reach the cell surface.
Histone deacetylase inhibitor Deriving from its activity as a
histone deacetylase inhibitor, sodium phenylbutyrate is under investigation for use as a potential differentiation-inducing agent in malignant
glioma and
acute myeloid leukaemia, While small-scale investigation is proceeding, there is to date no published data to support the use of the compound in the clinical treatment of cancer, and it remains under limited investigation. Sodium phenylbutyrate is also being studied as a therapeutic option for the treatment of Huntington's disease.
Other Phenylbutyrate has been associated with longer lifespans in
Drosophila. University of Colorado researchers Curt Freed and Wenbo Zhou demonstrated that phenylbutyrate stops the progression of
Parkinson's disease in mice by turning on a gene called
DJ-1 that can protect
dopaminergic neurons in the
midbrain from dying. they plan on testing phenylbutyrate for the treatment of Parkinson's disease in humans. ==Pharmacology==