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J Pediatr Genet 2023; 12(02): 175-178
DOI: 10.1055/s-0041-1739288
Case-Based Review

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

Bhanudeep Singanamalla
1   Department of Pediatrics, Pediatric Neurology Unit, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India
,
Pradip Paria
1   Department of Pediatrics, Pediatric Neurology Unit, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India
,
Renu Suthar
1   Department of Pediatrics, Pediatric Neurology Unit, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India
,
Arushi G. Saini
1   Department of Pediatrics, Pediatric Neurology Unit, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India
,
Savita V. Attri
2   Department of Pediatrics, Pediatric Biochemistry Unit, Advanced, Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India
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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.




Publication History

Received: 09 October 2020

Accepted: 08 December 2020

Article published online:
05 May 2022

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