Amelioration of proximal renal tubular dysfunction in type I glycogen storage disease with dietary therapy

Article Abstract:

When cells of the body lack sufficient quantities of necessary enzymes (chemicals that catalyze the biochemical breakdown of more complex molecules), there is an accumulation of the more complex molecule that would normally be broken down. In Type I glycogen storage disease, the starch glycogen accumulates because of a deficiency of enzymes necessary to metabolize it. Implicated in this disease are glucose-6-phosphatase and glucose-6-phosphate translocase enzymes. Type I glycogen storage disease is diagnosed by the presence of enlarged liver, diminished growth, elevated levels of lactic acid, uric acid and lipoproteins in the blood, and a high incidence of hepatic adenoma (a liver tumor). The blood level of glucose is also lowered (hypoglycemia), and appears to be the factor leading to slow growth and other metabolic symptoms. One method of diet therapy for this group of patients involves large amounts of uncooked corn starch. Over time, other difficulties arise, such as gout, loss of bone minerals, and chronic renal (kidney) disease. A group of 19 patients confirmed with Type I glycogen storage disease was studied with particular attention to renal disease. Three of these patients had never received dietary therapy and had severe growth retardation, while one had delayed puberty, and two had hepatic adenomas. Severe kidney dysfunction was also seen in these same three young patients. The other patients had been successfully treated by dietary measures, including cornstarch and slow infusion of glucose at night (via a nasogastric tube). The fact that all three of the untreated patients had renal disease may indicate that the incidence of renal dysfunction in this disease is more frequent than previously thought. When dietary therapy was initiated, the condition of the patients rapidly improved. Clear evidence of renal disease was not found in the group of treated patients. (Consumer Summary produced by Reliance Medical Information, Inc.)

Health aspects, Causes of, Cornstarch, Renal manifestations of general diseases, Renal manifestations

---

Brief report: renal tubular acidosis in carnitine palmitoyltransferase type 1 deficiency

Article Abstract:

A girl with a disorder in fatty acid metabolism was suffering from a carnitine palmitoyltransferase type 1 deficiency. Certain genetic disorders may cause an enzyme deficiency that interferes with metabolism of the fatty acid portion of fat molecules. A fasting study of a 26-month-old girl found that her blood glucose (sugar) levels decreased after 19.5 hours of fasting, and blood levels of fatty acids increased. Treatment with medium chain triglycerides increased her blood glucose levels. Biochemical studies of her skin cells found that activity of the enzyme carnitine palmitoyltransferase type 1 was decreased, but activity of carnitine palmitoyltransferase type 2 was normal. These results indicated that she had a carnitine palmitoyltransferase type 1 deficiency. Carnitine palmitoyltransferase type 1 is involved in the first step of fatty acid metabolism. The girl was treated with medium-chain triglycerides, and fed a low-fat diet.

Abnormalities, Mitochondrial membranes, Mitochondrial membrane, Carnitine, Fatty acid metabolism

---

Sweet success--a treatment for McArdle's disease

Article Abstract:

Some people with a metabolic disease called McArdle's disease may want to drink a sugary drink about a half-hour before exercising. People with McArdle's disease have an enzyme defect that prevents their muscles from converting glycogen into glucose, the major form of blood sugar. The sugar in the drink can enter the bloodstream and provide a source of sugar for their muscles.

Raw cane sugar, Sucrose, Sugarcane Mills

Similar abstracts:

• Abstracts: The evolution of editorial peer review. How to use an article reporting variations in the outcomes of health services
• Abstracts: Evaluation and management of menstrual dysfunction in athletes. A 21-year-old woman with menstrual irregularity
• Abstracts: Evaluation of blunt abdominal trauma in the third trimester of pregnancy: maternal and fetal considerations. Aloe vera dermal wound gel is associated with a delay in wound healing
• Abstracts: Gestational trophoblastic disease: what have we learned in the past decade? Levels of placenta growth factor in gestational trophoblastic diseases
• Abstracts: Relation between rectal sensation and anal function in normal subjects and patients with faecal incontinence. Changes in rectal sensitivity after hypnotherapy in patients with irritable bowel syndrome

This website is not affiliated with document authors or copyright owners. This page is provided for informational purposes only. Unintentional errors are possible.