Growth and development in girls and women with classic galactosemia 公开

Abstract

Classic galactosemia results from profoundly impaired function of the enzyme galactose-1-phosphate uridylyltranferase (GALT). Delayed postnatal growth has been reported as a long-term complication of the disorder. The purpose of this investigation was to characterize the growth patterns of girls and women with classic galactosemia through childhood and into adulthood. Collected growth information from individuals with classic galactosemia was compared to data from unaffected siblings. The study also aimed to evaluate whether a relationship exists between patient physical growth, predicted residual GALT activity, hormone replacement therapy (HRT) use, and ovarian function reflected in plasma AMH levels.

Results showed that, as a group, girls with galactosemia between the ages of 3 and 14 years had median heights below the 20^th percentile. However, as the galactosemic girls grew to become young adults their median heights reached above the 50^th percentile. Additionally, galactosemic girls and women between the ages of 3 to 24 years had median BMIs between the 20^th and 40^th percentiles. However, both affected and unaffected girls and women over the age of 20 years had very similar median BMI percentiles and median height standard deviations.

Girls and women who reported using HRT had slightly higher median height percentiles compared to those who did not undergo HRT. We did not see a relationship between AMH level and either height or BMI among galactosemic girls and young women. Additionally, there did not appear to be a connection between predicted residual GALT activity and either height or BMI among galactosemic girls and young women. However, the number of volunteers for whom we had growth data, AMH levels, and predicted residual GALT activity was very limited.

I hope our findings will lead to a more thorough understanding of growth patterns, and the factors that impact growth of girls with classic galactosemia. Ultimately, this information could assist patients and their health care providers in making informed decisions about potential hormone replacement therapy regimens.

Table of Contents

Introduction...1

Figure 1...2

Methods...8 Results...11

Figure 2...12

Figure 3...13

Figure 4...15

Figure 5...16

Figure 6...17

Figure 7...18

Figure 8...19

Figure 9...20

Table 1...21

Figure 10...22

Discussion...22 References...30

About this Honors Thesis

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School	Emory College
Department	Biology
Degree	BS
Submission	Honors Thesis
Language	English
Research Field	Biology, Genetics
关键词	Galactosemia Growth
Committee Chair / Thesis Advisor	Fridovich-Keil, Judith, Emory University
Committee Members	Kelly, William G, Emory University Shepherd, Iain, Emory University

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