PMID- 37090831
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20230506
IS  - 2146-4596 (Print)
IS  - 2146-460X (Electronic)
IS  - 2146-460X (Linking)
VI  - 12
IP  - 2
DP  - 2023 Jun
TI  - The Challenge of Severe Acute Malnutrition in Inborn Errors of Metabolism: Does 
      Medical Food Alone Suffice?
PG  - 175-178
LID - 10.1055/s-0041-1739288 [doi]
AB  - 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.
CI  - Thieme. All rights reserved.
FAU - Singanamalla, Bhanudeep
AU  - Singanamalla B
AD  - Department of Pediatrics, Pediatric Neurology Unit, Advanced Pediatrics Centre, 
      Postgraduate Institute of Medical Education and Research, Chandigarh, India.
FAU - Paria, Pradip
AU  - Paria P
AD  - Department of Pediatrics, Pediatric Neurology Unit, Advanced Pediatrics Centre, 
      Postgraduate Institute of Medical Education and Research, Chandigarh, India.
FAU - Suthar, Renu
AU  - Suthar R
AD  - Department of Pediatrics, Pediatric Neurology Unit, Advanced Pediatrics Centre, 
      Postgraduate Institute of Medical Education and Research, Chandigarh, India.
FAU - Saini, Arushi G
AU  - Saini AG
AD  - Department of Pediatrics, Pediatric Neurology Unit, Advanced Pediatrics Centre, 
      Postgraduate Institute of Medical Education and Research, Chandigarh, India.
FAU - Attri, Savita V
AU  - Attri SV
AD  - Department of Pediatrics, Pediatric Biochemistry Unit, Advanced, Pediatrics 
      Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, 
      India.
LA  - eng
PT  - Journal Article
DEP - 20220505
PL  - Germany
TA  - J Pediatr Genet
JT  - Journal of pediatric genetics
JID - 101589859
PMC - PMC10118697
OTO - NOTNLM
OT  - carnitine
OT  - glutaric aciduria-1
OT  - malnutrition
OT  - riboflavin
COIS- Conflict of Interest None declared.
EDAT- 2023/04/24 06:42
MHDA- 2023/04/24 06:43
PMCR- 2023/05/05
CRDT- 2023/04/24 03:46
PHST- 2020/10/09 00:00 [received]
PHST- 2020/12/08 00:00 [accepted]
PHST- 2023/04/24 06:43 [medline]
PHST- 2023/04/24 06:42 [pubmed]
PHST- 2023/04/24 03:46 [entrez]
PHST- 2023/05/05 00:00 [pmc-release]
AID - 2000177 [pii]
AID - 10.1055/s-0041-1739288 [doi]
PST - epublish
SO  - J Pediatr Genet. 2022 May 5;12(2):175-178. doi: 10.1055/s-0041-1739288. 
      eCollection 2023 Jun.