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Updated: Jul 11, 2025

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香港的艾伦-赫伦登-达德利综合征:对新生儿查的影响

Rachel Sze-Wan Yiu1, Tsz-Ki Ling1, Chun-Hung Ko2

  • 1Division of Chemical Pathology, Department of Pathology, Queen Mary Hospital, Hong Kong, China.

Clinica chimica acta; international journal of clinical chemistry
|November 5, 2023
PubMed
概括

早期发现艾伦-赫伦登-达德利综合征 (MCT 8 缺乏) 是至关重要的. 在新生儿中测量反向T3 (rT3) 可以改善诊断,从而能够更早地治疗这种X关联疾病.

关键词:
艾伦-赫伦顿-达德利综合征 (Allan-Herndon-Dudley syndrome) 是一种症状,它发生在一个人身上.发育迟缓的发展延迟这是一个MCT8缺陷.新生儿查 新生儿查在 SLC16A2 中.甲状腺激素是甲状腺激素的一种.

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Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
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