P727: Frequency of females with two phenylalanine hydroxylase gene variants and a potential mild phenotype in a reproductive carrier screening population

Liana Abramson; Katherine Howard; Namita Trikannad; Yu Leng Phua; Sarah Keilman; Kathleen D. Kueck; PETER A. BENN; Amber Shamburger; Vernon Reid Sutton

doi:10.1016/j.gimo.2026.104219

P727: Frequency of females with two phenylalanine hydroxylase gene variants and a potential mild phenotype in a reproductive carrier screening population

Genetics in Medicine Open 2026 Open access

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Authors: Liana Abramson, Katherine Howard, Namita Trikannad, Yu Leng Phua, Sarah Keilman, Kathleen D. Kueck, PETER A. BENN, Amber Shamburger, Vernon Reid Sutton

DOI: 10.1016/j.gimo.2026.104219

Cited by: 0

Abstract

Phenylalanine hydroxylase (PAH) deficiency is an autosomal recessive disorder resulting in a spectrum of phenotypes (classic, moderate, mild, hyperphenylalaninemia [HPA]). Individuals with two pathogenic/likely pathogenic (P/LP) variants in trans, at least one of which has been associated with mild phenotypes, may present with mild PAH deficiency or HPA. Rarely, individuals with mild PAH deficiency may progress to childbearing age without knowledge of their condition. This could be due to loss to follow-up after early diagnosis or birth in a country without a national newborn screening program.

Fields of Study & Subjects

Metabolism and Genetic Disorders Genomics and Rare Diseases Lysosomal Storage Disorders Research

Publication details

Journal / source: Genetics in Medicine Open
Volume: 4
Pages: 104219–104219
Publication date: 1 January 2026
Language: EN