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DOI: 10.1055/s-0041-1739288
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.
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.
Publication History
Received: 09 October 2020
Accepted: 08 December 2020
Article published online:
05 May 2022
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References
- 1 Dalwai S, Choudhury P, Bavdekar SB. et al; Indian Academy of Pediatrics, Indian Academy of Pediatrics. Consensus Statement of the Indian Academy of Pediatrics on integrated management of severe acute malnutrition. Indian Pediatr 2013; 50 (04) 399-404
- 2 Boy N, Mühlhausen C, Maier EM. et al; Additional individual contributors. Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision. J Inherit Metab Dis 2017; 40 (01) 75-101
- 3 Gokmen-Ozel H, MacDonald A, Daly A. et al. Dietary practices in glutaric aciduria type 1 over 16 years. J Hum Nutr Diet 2012; 25 (06) 514-519
- 4 Yannicelli S, Rohr F, Warman ML. Nutrition support for glutaric acidemia type I. J Am Diet Assoc 1994; 94 (02) 183-188 , 191, quiz 189–190
- 5 Strauss KA, Brumbaugh J, Duffy A. et al. Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: focus on cerebral amino acid influx. Mol Genet Metab 2011; 104 (1,2): 93-106
- 6 Müller E, Kölker S. Reduction of lysine intake while avoiding malnutrition–major goals and major problems in dietary treatment of glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis 2004; 27 (06) 903-910