In this type the enzyme glucose-6-phosphatase is defective in the liver, kidney, and small intestine, where it normally functions. However, the metabolic problem is centered in the liver.
o von Gierkes disease
o Hepatorenal Glycogenosis
o Glucose-6-Phosphatase Deficiency Glycogen Storage Disease
o Type I Glycogenosis
Patients with Type I GSD are unable to release glucose from glycogen. They cannot maintain their blood glucose levels and within a few hours after eating develop hypoglycemia (low blood sugar). The low levels of glucose in the blood of these patients often result in chronic hunger, fatigue, and irritability that is especially noticeable in infants. Symptoms of hypoglycemia only begin to appear when the interval between feedings increases and the infant sleeps through the night or when an illness prevents normal feeding routine. If the blood sugar falls to a low enough point, some patients may have seizures.
Since Type I patients are able to store glucose as glycogen but not release it normally, with time the stored glycogen builds up in the liver. Hormones, lactic acid, triglycerides, and other products are increased in the blood as the body attempts to raise blood sugar. Along with the glycogen Fats are stored in the liver, which leads to enlargement of the liver. The liver does its many other functions normally, and there is not usually any evidence of liver failure. Due to glycogen accumulation the kidneys are also enlarged.
The continued presence of hypoglycemia eventually leads the body to experience severe biochemical abnormalities and delayed growth and development. Untreated patients may have muscle wasting and increased body fat.
GENERALS – DEVELOPMENT, arrested
agar.;1 _ bac.;1 _ bar-c.;2 _ bar-c.;2 _ borx.;1 _ borx.;1 _ bufo;1 _ calc.;2 _ calc-p.;3 _ caust.;1 _ chin.;1 _ cupr.;1 _ cupr.;1 _ des-ac.;1 _ des-ac.;1 _ kali-c.;1 _ kreos.;1 _ lac-d.;1 _ med.;1 _ nat-m.;1 _ nat-m.;1 _ nep.;1 _ nep.;1 _ ph-ac.;1 _ phos.;2 _ pin-s.;1 _ sil.;2 _ sulfa.;1 _ sulfa.;1 _ sulph.;1 _ thyr.;1 _ vip.;1 _ vip.;1
When blood studies are done, it is discovered that there is usually a low blood sugar, elevated blood lactic acid, elevated cholesterol and other fats, and elevated uric acid concentration. High blood pressure has also been seen in a number of patients and when this occurs, appropriate treatment must be given.
GENERALS – URIC ACID diathesis, lithemia
berb.;1 _ chinin-s.;1 _ coc-c.;1 _ coc-c.;1 _ fab.;1 _ lyc.;2 _ lysd.;1 _ lysd.;1 _ nat-s.;1 _ sep.;1 _ skook.;1 _ thlas.;1 _ urt-u.;1
Patients with Type Ib Glycogen Storage Disease can develop frequent bacterial and fungal infections, due to abnormal functioning of the white blood cells. They may also develop chronic pancreatitis, chronic inflammatory bowel disease, and Crohn’s disease.
ABDOMEN – INFLAMMATION – Pancreas
atro.;2 _ bar-m.;1 _ con.;2 _ iod.;2 _ iris;2 _ kali-i.;2 _ merc.;2 _ spong.;3
ABDOMEN – INFLAMMATION – Gastroenteritis
aeth.;1 _ aloe;1 _ ant-t.;1 _ ant-t.;1 _ antip.;1 _ apis;1 _ apom.;1 _ ars.;1
The diagnosis of Type I GSD always includes blood studies, x-rays including some of the kidneys, measurements, and ultrasound of the liver. Gene-based mutation analysis can be used to diagnose the majority of Type I patients, while liver biopsy analysis may be needed in some cases.
The treatments of Type I Glycogen Storage Disease are aimed at correcting the biochemical abnormalities and promoting growth and development. Current treatments consist of providing a continuous source of glucose by giving the patient glucose drinks frequently during the day and, in most cases, continuously overnight. Glucose drinks may replace these glucose feedings with uncooked cornstarch doses, mixed in water, Kool-Aid etc.
Dr. Rajneesh Kumar Sharma
Homoeo Cure & Research Centre P. Ltd.
NH 74, Moradabad Road, Kashipur (Uttaranchal) 244713 India
Ph- 05947- 275535, 260327, 274338, 277418
Fax- 274338, 275535; Cells- 98 976 18594, 98 976 21896