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Updated: Jul 6, 2025

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具有新突变的婴儿银河状化症:早期呈现

Sonia Sharma1, Shailesh Gupta2, A P Mehta2

  • 1Division of Pediatric Nephrology, Department Pediatric, Fortis Hospital, New Delhi, India.

Journal of pediatric genetics
|January 1, 2024
PubMed
概括

Galactosialidosis (GS) 是一种罕见的 lysosomal 疾病. 基因检测发现了一种新的突变,有助于诊断新生儿的严重症状,如身体胀和呼吸困难.

关键词:
亚纳萨尔卡卡 (Anasarcaca) 是一个遗传性性综合征 (CNS) 是一种先天性性综合征.银河系化剂 (galactosialidosis) 是一种在新生儿中出现新生儿.血小板细胞减少症 (Thrombocytopenia) 是一种

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Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
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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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