propionic acidemia/phosphatase

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Coding sequence mutations in the alpha subunit of propionyl-CoA carboxylase in patients with propionic acidemia.

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Propionic acidemia is a rare autosomal recessive disorder of intermediary metabolism. It is caused by a deficiency of the mitochondrial enzyme propionyl-CoA carboxylase (PCC, EC 6.4.1.3), a heteropolymeric protein composed of two subunits, alpha and beta. PCC requires ATP and biotin as cofactors for

In vitro phosphorylation of cytoskeletal proteins in the rat cerebral cortex is decreased by propionic acid.

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In the present study we demonstrate that propionic acid (PA), a metabolite that accumulates in large amounts in propionic acidemia, is able to decrease in vitro incorporation of [32P]ATP into neurofilament subunits (NF-M and NF-L) and alpha- and beta-tubulin. Considering that the endogenous

Autism spectrum disorders and inborn errors of metabolism: an update.

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BACKGROUND Autism spectrum disorder is characterized by social communicative deficits with restricted interests occurring in about 1% of the population. Although its exact cause is not known, several factors have been implicated in its etiology, including inborn errors of metabolism. Although

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