Physical Growth of Patients with Hereditary Tyrosinaemia Type I: A Single-Centre Retrospective Study

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Yilmaz O., Daly A., Pinto A., Ashmore C., Evans S., Gupte G., ...More

NUTRIENTS, vol.13, no.9, 2021 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 13 Issue: 9
  • Publication Date: 2021
  • Doi Number: 10.3390/nu13093070
  • Journal Name: NUTRIENTS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Agricultural & Environmental Science Database, BIOSIS, CAB Abstracts, CINAHL, EMBASE, Food Science & Technology Abstracts, MEDLINE, Veterinary Science Database, Directory of Open Access Journals
  • Keywords: tyrosinaemia, growth, physical outcomes, weight, height, BMI, phenylalanine, tyrosine, diet, BODY-COMPOSITION, PHENYLALANINE, INHIBITION, DEFICIENCY, CHILDREN, INFANTS
  • Ankara University Affiliated: Yes

Abstract

In a retrospective review, we aimed to assess long-term growth in 17 patients (n = 11 males) with hereditary tyrosinaemia type I (HTI). Median age at assessment was 15.6 years (5.7-26.6 years) and median age at diagnosis was 1 month (range: 0-16 months), with 35% (n = 6/17) symptomatic on presentation. From the age of 8 years, there was a noticeable change in median height, weight, and body-mass-index [BMI]-z-scores. Median height-for-age z-scores were consistently <= -1 (IQR -1.6, -0.5) during the first 8 years of life but increased with age. Weight-for-age z-scores ranged between -1 to 0 (IQR -1.2, 0.1) in the first 8 years; then increased to > 0.5 (IQR -0.3, 1.3) by age 16 years, and BMI-for-age z-scores ranged from 0 to 1 (IQR -0.7, 1.3) up to 8 years, and >1 (IQR -0.2, 1.9) until 16 years. The percentage of overweight and obesity was lowest in children aged < 5 years, and consistently > 40% in patients aged between 7 to 16 years. The prescribed total protein intake was associated with improved height growth (p < 0.01). Impaired growth in early life improved with age achieving normal population standards. Further studies are needed to investigate factors that influence growth outcome in HTI patients.