PMID- 33081139
OWN - NLM
STAT- MEDLINE
DCOM- 20210419
LR  - 20210419
IS  - 2072-6643 (Electronic)
IS  - 2072-6643 (Linking)
VI  - 12
IP  - 10
DP  - 2020 Oct 16
TI  - Inconsistencies in the Nutrition Management of Glutaric Aciduria Type 1: An 
      International Survey.
LID - 10.3390/nu12103162 [doi]
LID - 3162
AB  - Glutaric aciduria type 1 (GA-1) is a cerebral organic aciduria characterized by 
      striatal injury and progressive movement disorder. Nutrition management shifted 
      from a general restriction of intact protein to targeted restriction of lysine 
      and tryptophan. Recent guidelines advocate for a low-lysine diet using 
      lysine-free, tryptophan-reduced medical foods. GA-1 guideline recommendations for 
      dietary management of patients over the age of six are unclear, ranging from 
      avoiding excessive intake of intact protein to counting milligrams of lysine 
      intake. A 22-question survey on the nutrition management of GA-1 was developed 
      with the goal of understanding approaches to diet management for patients 
      identified by newborn screening under age six years compared to management after 
      diet liberalization, as well as to gain insight into how clinicians define diet 
      liberalization. Seventy-six responses (25% of possible responses) to the survey 
      were received. Nutrition management with GA-1 is divergent among surveyed 
      clinicians. There was congruency among survey responses to the guidelines, but 
      there is still uncertainty about how to counsel patients on diet optimization and 
      when diet liberalization should occur. Ongoing clinical research and better 
      understanding of the natural history of this disease will help establish stronger 
      recommendations from which clinicians can best counsel families.
FAU - Bernstein, Laurie
AU  - Bernstein L
AD  - Department of Pediatrics, Section of Medical Genetics, University of Colorado 
      Anschutz Medical Campus, Aurora, CO 80045, USA.
FAU - Coughlin, Curtis R
AU  - Coughlin CR
AD  - Department of Pediatrics, Section of Medical Genetics, University of Colorado 
      Anschutz Medical Campus, Aurora, CO 80045, USA.
FAU - Drumm, Morgan
AU  - Drumm M
AD  - Department of Pediatrics, Section of Medical Genetics, University of Colorado 
      Anschutz Medical Campus, Aurora, CO 80045, USA.
FAU - Yannicelli, Steven
AU  - Yannicelli S
AUID- ORCID: 0000-0002-3277-6466
AD  - Nutricia North America, Rockville, MD 20850, USA.
FAU - Rohr, Fran
AU  - Rohr F
AD  - Met Ed Co, Boulder, CO 80302, USA.
LA  - eng
PT  - Journal Article
DEP - 20201016
PL  - Switzerland
TA  - Nutrients
JT  - Nutrients
JID - 101521595
RN  - 0 (Dietary Proteins)
RN  - 8DUH1N11BX (Tryptophan)
RN  - EC 1.3.8.6 (Glutaryl-CoA Dehydrogenase)
RN  - K3Z4F929H6 (Lysine)
RN  - Glutaric Acidemia I
SB  - IM
MH  - Amino Acid Metabolism, Inborn Errors/*diet therapy
MH  - Brain Diseases, Metabolic/*diet therapy
MH  - Child
MH  - Child Nutritional Physiological Phenomena/*physiology
MH  - Child, Preschool
MH  - Diet Therapy/*methods
MH  - Dietary Proteins/*administration & dosage
MH  - Female
MH  - Glutaryl-CoA Dehydrogenase/*deficiency
MH  - Humans
MH  - Infant
MH  - Infant Nutritional Physiological Phenomena/*physiology
MH  - Infant, Newborn
MH  - Lysine/*adverse effects
MH  - Male
MH  - Practice Guidelines as Topic
MH  - Recommended Dietary Allowances
MH  - Surveys and Questionnaires
MH  - Tryptophan/*adverse effects
PMC - PMC7602866
OTO - NOTNLM
OT  - diet
OT  - glutaric acidemia type 1
OT  - glutaric aciduria type 1
OT  - lysine-restricted
OT  - nutrition
OT  - protein
COIS- The authors declare no conflict of interest.
EDAT- 2020/10/22 06:00
MHDA- 2021/04/20 06:00
PMCR- 2020/10/01
CRDT- 2020/10/21 01:02
PHST- 2020/09/16 00:00 [received]
PHST- 2020/10/09 00:00 [revised]
PHST- 2020/10/12 00:00 [accepted]
PHST- 2020/10/21 01:02 [entrez]
PHST- 2020/10/22 06:00 [pubmed]
PHST- 2021/04/20 06:00 [medline]
PHST- 2020/10/01 00:00 [pmc-release]
AID - nu12103162 [pii]
AID - nutrients-12-03162 [pii]
AID - 10.3390/nu12103162 [doi]
PST - epublish
SO  - Nutrients. 2020 Oct 16;12(10):3162. doi: 10.3390/nu12103162.