MENKES DISEASE: A LITERATURE REVIEW AND CLINICAL CASE

N. Tokarchuk, T. Chekotun, L. Starynets, V. Antonets, L. Stanislavchuk
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Abstract

Menkes Kinky Hair Disease (MKHD) is characterized by an abnormality in copper metabolism caused by a mutation in the ATP7A gene, which is located on Xq13.3 and has 23 exons. In addition, this gene encodes 1500 amino acids and is expressed in large quantities in various organs. It’s worth mentioning that about 357 diff erent mutations have been identifi ed in the ATP7A gene. It is a relatively rare disease with an incidence of 1 case per 100,000 to 250,000 live births. MKHD is an X-linked recessive trait that almost exclusively aff ects boys.The diagnosis of this rare disease is based on the genetic- molecular study of a metabolic disease panel, including the ATP7A gene and the biochemical phenotype (a decrease in serum copper and ceruloplasmin levels).In developing therapeutic strategies for individuals with Menkes disease, three fundamental problems are being addressed: 1) unlocking the absorption of copper in the intestine; 2) making copper available to enzymes in cells that require it as a cofactor; and 3) identifying infants with Menkes disease and initiating treatment at a very early stage of life, before irreversible neurodegeneration occurs. This article presents a clinical case of Menkes disease in a 7-month-old boy. The diagnosis was confi rmed by molecular genetic testing (NGS) of the Neurometabolic Disorders Panel, which included the ATP7A gene and biochemical phenotype.  The described case illustrates the complexity of diagnosing Menkes disease in the neonatal period due to the non-specifi city of disease symptoms (lethargy, weak sucking, weight loss, etc.) and the importance of biochemical and molecular genetic methods of fetal investigation in subsequent pregnancies or in a newborn sibling for early diagnosis and treatment. This case will be published with the consent of the mother in accordance with bioethical principles.
男科疾病:文献综述和临床病例
门克氏症(MKHD)的特征是 ATP7A 基因突变导致的铜代谢异常,该基因位于 Xq13.3,有 23 个外显子。此外,该基因可编码 1500 个氨基酸,并在各种器官中大量表达。值得一提的是,在 ATP7A 基因中已发现约 357 种不同的突变。这是一种相对罕见的疾病,发病率为每 10 万至 25 万活产婴儿中 1 例。门克氏症是一种 X 连锁隐性遗传病,几乎只影响男孩。这种罕见疾病的诊断是基于代谢性疾病的基因分子研究,包括 ATP7A 基因和生化表型(血清铜和脑磷脂水平下降):在为梅克斯病患者制定治疗策略时,要解决三个基本问题:1)打开肠道对铜的吸收;2)使细胞中需要铜作为辅助因子的酶获得铜;3)识别患有梅克斯病的婴儿,并在生命的早期阶段,即在发生不可逆的神经变性之前开始治疗。本文介绍了一个 7 个月大男婴患门克思病的临床病例。诊断是通过神经代谢性疾病分子基因检测(NGS)得出的,其中包括 ATP7A 基因和生化表型。 本病例说明,由于疾病症状(嗜睡、吸吮无力、体重减轻等)的非特异性,在新生儿期诊断门克氏症非常复杂,因此在后续妊娠或新生儿兄弟姐妹中采用生化和分子遗传学方法对胎儿进行检查对于早期诊断和治疗非常重要。根据生物伦理原则,本病例将在征得母亲同意后发表。
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