Acylcarnitines are fatty acid metabolites that play important roles in many cellular energy
metabolism pathways. They have historically been used as important diagnostic markers for …

For this GeneReview, the term" isolated methylmalonic acidemia" refers to a group of inborn
errors of metabolism associated with elevated methylmalonic acid (MMA) concentration in …

Abstract Glutaric acidemia type 1 (GA1) is a disorder of cerebral organic acid metabolism
resulting from biallelic mutations of GCDH. Without treatment, GA1 causes striatal …

Organic acidurias (OADs) are inherited neurometabolic diseases largely caused by
deficiencies in enzymes involved in amino acid degradation, which result in accumulation of …

Organic acidurias (OADs) comprise a biochemically defined group of inherited metabolic
diseases. Increasing awareness, reliable diagnostic work‐up, newborn screening programs …

Isovaleric aciduria (IVA), a metabolic disease with severe (classic IVA) or attenuated
phenotype (mild IVA), is included in newborn screening (NBS) programs worldwide. The …

Once based mainly in paediatrics, inborn errors of metabolism (IEM), or inherited metabolic
disorders (IMD) represent a growing adult medicine specialty. Individually rare these …

The SARS‐CoV‐2 pandemic challenges healthcare systems worldwide. Within inherited
metabolic disorders (IMDs) the vulnerable subgroup of intoxication‐type IMDs such as …

Organic acidurias, such as glutaric aciduria type 1 (GA1), methylmalonic (MMA), and
propionic aciduria (PA) are a prominent group of inherited metabolic diseases involving …

Purpose To characterize the phenotypic and genotypic variations associated with Glutaric
aciduria type 1 (GA1) in Chinese patients. Methods We analyzed the clinical …