The Challenge of Severe Acute Malnutrition in Inborn Errors of Metabolism: Does Medical Food Alone Suffice?

Abstract

Glutaric aciduria type 1 (GA-1) is a treatable inborn error of metabolism caused by glutaryl-CoA dehydrogenase deficiency. This enzyme deficiency leads to accumulation of glutaric acid, 3-hydroxy glutaric acid, and glutaconic acid which are potentially neurotoxic. Patients with GA-1 have characteristic clinical and neuroimaging features that help us to clinch the diagnosis. Early diagnosis by newborn screening helps us to prevent the motor problems such as dystonia and spasticity. Treatment includes low-protein diet along with carnitine supplementation which may lead to deficiency of essential amino acids and hence malnutrition. Managing malnutrition in a child with inborn errors of metabolism (IEM) is challenging. Here, we describe a patient, a case of GA-1 on medical food, presenting with severe acute malnutrition, who improved with a combination of medical and home-made foods along with lysine-free, tryptophan-reduced amino acid supplements.

Keywords

malnutrition - glutaric aciduria-1 - riboflavin - carnitine

Authors' Contributions

B.S. and P.P. prepared the initial draft of the manuscript. R.S., A.G.S., and S.V.A. critically reviewed and approved the final version of the manuscript.

Ethical Approval

The manuscript was approved by the Departmental Review Board.

Publikationsverlauf

Eingereicht: 09. Oktober 2020

Angenommen: 08. Dezember 2020

Artikel online veröffentlicht:
05. Mai 2022

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