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肝醣儲積症第1型

Name of disease:

Glycogen Storage Disease - Type 1

ICD-10 diagnosis code:

E74.00

Causes:

Most cases of GSD1 are associated with genetic causes, and it can run in families in autosomal recessive pattern. Abnormalities is associated with the mutation of G6PC or SLC37A4 gene. This results in insufficient enzymes that block glycogen breakdown and lead to excess glycogen and low level of glucose

Mode of inheritance:

GSD1 cases are inherited from parents in autosomal recessive pattern.

Prevalence:

1/ 100,000

Diagnosis:

Diagnosis of aHUS is based on laboratory tests with abnormally low levels of glucose, high level of lactate, uric acid and lipid Molecular genetic testing for G6PC or SLC37A4 gene mutation can also be used to confirm diagnosis or check if a person is a carrier.

Age of onset:

3-4 months of age

Common signs and symptoms:

Low blood sugar level (hypoglycemia) Enlargement of liver and kidney Elevated levels of lactate and uric acid Seizure due to repeated hypoglycemia Delayed growth and development due to continued hypoglycemia Muscle weakness Doll-like faces with fat cheeks Relatively thin extremities Short stature Protuberant abdomen Benign liver tumor if untreated

Available treatments (medicinal and non-medicinal):

GSD1 is managed by dietary control to prevent hypoglycemia. Surgical procedure can be used to treat liver tumor. Liver transplantation might be considered if therapies are unsuccessful or liver adenomas keep growing.

Disease management tips:

For the dietary control, patients are recommended to have frequent small servings of carbohydrates during the day and night. Frequent feedings of uncooked cornstarch are also used to maintain and improve blood levels of glucose Patients may have elevated level of uric acid which may result in gout-like arthritis. Allopurinol may therefore be used to reduce the level of uric acid in blood. Early diagnosis and effective treatment can result in normal growth and puberty. Therefore, patients should seek medical counselling once symptoms of GSD1 are observed. Patients with GSD1 should be monitored at least annually with kidney and liver ultrasound and routine blood work to monitor the organ function.

References:

https://rarediseases.org/rare-diseases/glycogen-storage-disease-type-i https://rarediseases.info.nih.gov/diseases/7864/glycogen-storage-disease-type-1a

Other useful websites:

Patient Groups: Association for Glycogen Storage Disease https://www.agsdus.org The Children’s Fund for Glycogen Storage Disease Researchhttp://www.cureGSD.org