Undigested food is fermented in the colon by the microbiota and gives rise to various
microbial metabolites. Short-chain fatty acids (SCFA), including acetic, propionic and butyric …

Each Association appointed at least one author to serve on the writing group. The Chair of
the writing group was appointed by the AASLD. Members of the writing group were not …

Children with genetic syndromes frequently have feeding problems and swallowing
dysfunction as a result of the complex interactions between anatomical, medical …

Inborn errors of metabolism (IEMs) are a group of disorders each of which results from
deficient activity of a single enzyme in a metabolic pathway. Although IEMs are individually …

Background Inborn errors of metabolism (IEMs) have been anecdotally reported in the
literature as presenting with features of cerebral palsy (CP) or misdiagnosed as 'atypical CP' …

Taking a practical, easy-to-reference signs and symptoms approach, Fenichel's Clinical
Pediatric Neurology, 8th Edition, provides a solid foundation in the diagnosis and …

Inborn errors of metabolism comprise a large class of genetic diseases involving disorders
of metabolism. Presentation is usually in the neonatal period or infancy but can occur at any …

Background Isovaleric aciduria (IVA), propionic aciduria (PA) and methylmalonic aciduria
(MMA) are inherited organic acidurias (OAs) in which impaired organic acid metabolism …

Methylmalonic acidemia (MMA) is usually caused by a deficiency of the enzyme
methylmalonyl-CoA mutase (MCM), a defect in the transport or synthesis of its cofactor …

Acyl-CoA thioesterase (ACOT) activities are found in prokaryotes and in several
compartments of eukaryotes where they hydrolyze a wide range of acyl-CoA substrates and …