Inborn Errors of Metabolism in Adults: Two Patients with Movement Disorders Caused by Glutaric Aciduria Type 1
Abstract
Movement disorders can be caused by many different acquired and genetic causes, including inborn errors of metabolism (IEM). Symptoms of an IEM can occur from infancy until adulthood and range from subtle to very severe symptoms. In particular, in patients that present later in life, symptoms are often less pronounced and progressive compared to the severe childhood-onset forms. Late-onset IEM often present with complex phenotypes, including (multiple) movement disorders and psychiatric symptoms. In clinical practice, IEM are rarely considered in adult patients presenting with a movement disorder, leading to diagnostic and treatment delay. Glutaric aciduria type 1 (GA-1) is an example of an IEM that can present with movement disorders in adulthood. GA-1 is an autosomal recessive IEM with an estimated incidence of 1:100,000 in neonates and was first described in 1975. It is caused by a deficiency of glutaryl-CoA dehydrogenase (GCDH), which is part of the catabolic pathways of the amino acids L-lysine, L-hydroxylysine, and L-tryptophan. The enzymatic defect results in elevated concentrations of specific organic acids, such as glutaric acid, 3-hydroxyglutaric acid, glutaconic acid, and specific carnitines conjugates, such as glutaryl carnitine, in body tissues, which can all be reliably detected by biochemical analyses using gas chromatography/ mass spectrometry (organic acids) and tandem mass spectrometry (acylcarnitines). We present 2 adult patients who presented with…
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