I. Overview Gaucher′s disease, also known as glucoserbroside lipidcsis, is caused by a decrease or lack of β-glucocerehrosidase, which prevents the breakdown of glucoserbroside into galactosides or glucose and N-acylsphingosine,…
I. Overview Niemann-Pick disease (NPD for short), also known as sphingomyelin lipidosis, is a congenital glycolipid metabolic disease. It is characterized by a large number of foamy cells containing neurosphingomyelin…
The child, a 6-year-old female, presented to the outpatient clinic with hoarseness and dyspnea for 2 hours, and was considered to have a third-degree laryngeal obstruction, and was proposed to…
In classic patients, take type I as an example: 1. Rough face: large head, boat-shaped head, prominent forehead, thick eyebrows, prominent eyes, swollen eyelids, low nasal bridge and upturned nostrils.…
1, urine mucopolysaccharide quantification and electrophoresis: specimens are best used in morning urine, which can reveal an increase in the amount of mucopolysaccharide, and each type corresponds to a different…
In general, untreated patients with lighter forms of the disease live longer, while heavy forms have a poor prognosis, e.g., type I heavy patients tend to die within 10 years…
1.Hematopoietic stem cell transplantation: This is a specific treatment for mucopolysaccharide storage disease, which originated in the 1980s. The biggest disadvantage of hematopoietic stem cell transplantation is the presence of…
When it comes to mucopolysaccharidoses, many people may be unfamiliar with it. Today I will introduce you to mucopolysaccharidoses so that you can have an understanding of this disease. What…
The body’s daily metabolism absorbs useful substances to help infants and adolescents grow, or to maintain the daily activities of adults. Metabolism also produces many large molecules that the body…
Mucopolysaccharidosis (MPS) is a group of diseases in which acidic mucopolysaccharide molecules cannot be degraded and accumulate in the lysosomes due to lysosomal enzyme defects. According to the clinical manifestations…