Abstract | PURPOSE: METHODS: We searched Medline and Embase for evidence of treatment concerning PAH deficiency up to September 28, 2021. Risk of bias was evaluated based on study design. Random-effects meta-analyses were performed to compare IQ, gestational outcomes, and offspring outcomes based on Phe ≤ 360 μmol/L vs > 360 μmol/L and reported as odds ratio and 95% CI. Remaining results were narratively synthesized. RESULTS: A total of 350 studies were included. Risk of bias was moderate. Lower Phe was consistently associated with better outcomes. Achieving Phe ≤ 360 μmol/L before conception substantially lowered the risk of negative effect to offspring in pregnant individuals (odds ratio = 0.07, 95% CI = 0.04-0.14; P < .0001). Adverse events due to pharmacologic treatment were common, but medication reduced Phe levels, enabling dietary liberalization. CONCLUSIONS: Reduction of Phe levels to ≤360 μmol/L through diet or medication represents effective interventions to treat PAH deficiency.
|
Authors | April D Adams, Moisés Ó Fiesco-Roa, Lawrence Wong, Gabrielle P Jenkins, Jennifer Malinowski, Olivia M Demarest, Paul G Rothberg, Judith A Hobert, ACMG Therapeutics Committee. Electronic address: [email protected] |
Journal | Genetics in medicine : official journal of the American College of Medical Genetics
(Genet Med)
Vol. 25
Issue 9
Pg. 100358
(09 2023)
ISSN: 1530-0366 [Electronic] United States |
PMID | 37470789
(Publication Type: Systematic Review, Practice Guideline, Journal Article)
|
Copyright | Copyright © 2022 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved. |
Chemical References |
- Phenylalanine
- Phenylalanine Hydroxylase
|
Topics |
- Pregnancy
- Female
- Humans
- United States
- Genetics, Medical
- Phenylalanine
- Phenylketonurias
(drug therapy, genetics)
- Phenylalanine Hydroxylase
(genetics)
- Phenylketonuria, Maternal
- Genomics
|