Mucopolysaccharidosis type VI: a case report?

summary

Proteoglycan catabolism disorder caused by congenital defect of proteoglycan degrading enzyme. It is characterized by excessive accumulation and excretion of oligosaccharides. Mucopolysaccharidosis type I (H) is also known as Chengliu disease because it has an ugly face and looks like a monster in the gutter under the eaves of ancient Chinese buildings. Mucopolysaccharidosis type VI: a case report? Next, I'd like to share my views with you.

Mucopolysaccharidosis type VI: a case report?

A group of rare congenital genetic diseases are mainly due to the deficiency of lysosomal hydrolase which is needed to degrade mucopolysaccharide (now known as glycosaminoglycan), resulting in a large amount of mucopolysaccharide accumulation in tissues, resulting in bone development disorders, hepatosplenomegaly, mental retardation and increased mucopolysaccharide excretion in urine. Patients with mucopolysaccharidosis I (H) have ugly faces, which are similar to the monsters on the gutters under the eaves of ancient Chinese buildings.

The number of male patients was more than that of female patients, most of them were the offspring of close relatives, and most of them had family history. There is no specific treatment, only symptomatic and supportive treatment. The prognosis varies with the type of enzyme deficiency. Under normal circumstances, more than one year after the birth of children with disease, 10 years old or so died, but some patients can survive to more than 50 years old.

Mucopolysaccharide, i.e. amino polysaccharide, belongs to straight chain polysaccharide, which is composed of hexosamine and uronic acid, and is repeatedly linked to form a long chain. Mucopolysaccharide contains uronic acid and sulfuric acid group, so it is acidic. Hyaluronic acid, chondroitin, dermatan sulfate, heparin and keratin sulfate are common mucopolysaccharides in connective tissue.

matters needing attention

Most of the cases are autosomal recessive inheritance. Mucopolysaccharide can be found in the fibroblast culture of the patients and their heterozygous relatives. For those with positive family history, amniotic fluid examination can be done at 16-20 weeks of gestation to determine the content of mucopolysaccharide in amniotic fluid. Amniotic fluid cell culture can also be used to determine enzyme activity. If prenatal diagnosis, timely termination of pregnancy, to prevent mucopolysaccharidosis baby born.