What are the symptoms of glycogen storage disease type VI in children?

summary

Glycogen storage disease type VI in children is caused by deficiency of liver phosphorylase, which is rare. Most of the children showed hepatomegaly and growth retardation, hypoglycemia, hyperlipidemia and ketosis increase in early childhood, with mild degree, without heart and skeletal muscle involvement; With the increase of age, liver enlargement and growth retardation gradually improved, and often disappeared in puberty.

What are the symptoms of glycogen storage disease type VI in children?

There was no significant gender difference between the two groups. Clinically, it is similar to glycogen storage disease type I and III, but milder than type I. Most of the children showed hepatomegaly and growth retardation in early childhood, with mild increase of blood lipid and transaminase. Hypoglycemia is rare. Some people think it is benign hepatomegaly, without heart and skeletal muscle involvement, and normal intelligence. With the increase of age, liver enlargement and growth retardation gradually improved, and often disappeared in puberty. Most children need no treatment.

Check, normal people take a certain amount of glucose, blood glucose first increased, but after a certain period of time, the human body will be glucose synthesis glycogen to be stored, blood glucose is restored to fasting level. If after taking a certain amount of glucose, the blood glucose and urine glucose are measured at a certain interval, and the changes of blood glucose concentration before and after glucose administration are observed, so as to infer the insulin secretion, this measurement is called glucose tolerance test. Glucose tolerance test is mostly used in children with suspected diabetes. Glucose tolerance test showed typical characteristics of diabetes.

Most of the children showed hepatomegaly and growth retardation, hypoglycemia, hyperlipidemia and ketosis increase in early childhood, with mild degree, without heart and skeletal muscle involvement; With the increase of age, liver enlargement and growth retardation gradually improved, and often disappeared in puberty. Most children do not need treatment, in order to prevent hypoglycemia, can take a small number of ways to eat, or give high carbohydrate diet.

matters needing attention

Can use high protein diet, a small number of times. It can also supplement the new deficient enzyme (phosphorylase catalyzes the d-1,4-glycosidic bond breaking reaction of the glucose residue at the reducing end of glycogen to produce glucose 1-phosphate and glycogen molecule with one glucose group missing, but the role of phosphorylase is limited to 1,4-glycosidic bond) for replacement therapy. Most children do not need treatment, in order to prevent hypoglycemia, can take a small number of ways to eat, or give high carbohydrate diet.