What is myxolipomatosis type I?

summary

Myxolipomatosis is due to the lack of phosphotransferase, which can not form a recognition mark on the oligosaccharide chain of the corresponding enzyme, resulting in a variety of acid hydrolases formed in the rough endoplasmic reticulum can not reach the lysosome, but secreted to the outside of the cell, resulting in the disease, which is characterized by a large increase in a variety of lysosomal enzymes in the serum. What is myxolipomatosis type I? Let's talk about it

What is myxolipomatosis type I?

The clinical manifestations of type II mucopolysaccharidosis are similar to that of type I mucopolysaccharidosis. It is characterized by obvious clinical and X-ray abnormalities at birth, slow response, but no mucopolysaccharidosis. The disease is more serious than mucopolysaccharidosis type I. it occurs earlier and has been shown at birth,

Low birth weight, serious growth and nervous system development disorders, the final height is rarely more than 80 cm, rough face, gingival hyperplasia, moderate hepatosplenomegaly, severe skeletal deformity, limited joint activity, generally died at the age of 5-7, a few can be more than 10 years old.

The symptoms of type III and type II of myxolipomatosis are similar. Joint contracture may occur in early childhood, but the disease develops slowly and can survive to adults. There is no mental retardation or mild mental retardation, and the pathological changes are very mild. According to these characteristics, it can be distinguished from type II of myxolipomatosis. At present, it is considered that the two types are genetic heterogeneity diseases with the same etiology but different manifestations.

matters needing attention

When abnormal metabolism results in the lack of some essential substances in the body, it should be supplemented by diet; In order to maintain the balance, it is necessary to limit the intake of the metabolite or its precursor when the metabolite is accumulated. A low phenylalanine diet is a good example for patients with phenylketonuria. In addition, it can also reduce the intake by limiting the absorption of specific substances, such as phenylalanine aminohydrolase capsules for patients with phenylketonuria, which can convert phenylalanine in food into trans phenylacrylic acid and be eliminated.