Children born with GSD I typically exhibit growth failure, chronic hunger, fatigue, irritability, an enlarged liver, and a swollen abdomen. Blood tests may indicate low blood sugar concentration and higher than normal levels of lipids and uric acid. GSD I is an inherited genetic disorder which causes the deficiency of one of the enzymes that work together to help the body break down the storage form of sugar glycogen into glucose, which the body uses to keep blood sugar stable when a person is not eating.

Children with GSD I are usually diagnosed between 4 and 10 months of age. Testing will most likely include blood tests, imaging tests such as ultrasound to measure the liver and kidneys, and possibly a genetic test or liver biopsy.

The treatment of type I glycogen storage disease is focused on correcting the metabolic changes in the body and promoting the growth and development of the child. A combination of uncooked cornstarch mixed in water, soy formula, or soy milk is often recommended.

Cornstarch is digested slowly, so it provides a steady release of glucose in between feedings. Current treatments consist of providing small, frequent feedings during the day.

Most doctors agree that certain sugars should be restricted, but the degree of restriction is still debated. In some cases, an overnight tube feeding, typically via a naso-gastric tube, is required to provide a continuous delivery of glucose. GSD I is an inherited genetic disorder. The effects of the disease are apparent very early in childhood.

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TEXTBOOKS Weinstein DA, Koeberl DD and Wolfsdorf JI. Type VII Glycogen Storage Disease. In: The NORD Guide to Rare Disorders, Philadelphia: Lippincott, Williams and Wilkins, Chen Y-T. Glycogen storage diseases. In: Scriver CR, Beaudet AL, Sly WS, et al.

The metabolic and molecular basis of inherited diseases. New York: McGraw-Hill, JOURNAL ARTICLES Kanungo S, Wells K, Tribett T, El-Gharbawy A. Glycogen metabolism and glycogen storage disorders.

Ann Transl Med. Brüser A, Kirchberger J, Schöneberg T. Altered allosteric regulation of muscle 6-phosphofructokinase causes Tarui disease [published correction appears in Biochem Biophys Res Commun. Biochem Biophys Res Commun.. Toscano A, Musumeci O. Tarui disease and distal glycogenoses: clinical and genetic update.

Acta Myol. Ronquist G. South Med J. INTERNET McKusick VA, ed. Online Mendelian Inheritance in Man OMIM. Baltimore, MD: The Johns Hopkins University; Entry No.

NORD strives to open new assistance programs as funding allows. NORD and MedicAlert Foundation have teamed up on a new program to provide protection to rare disease patients in emergency situations. This first-of-its-kind assistance program is designed for caregivers of a child or adult diagnosed with a rare disorder.

Rare Disease Database. Glycogen Storage Disease Type 7 Print. Acknowledgment NORD gratefully acknowledges Tina K. GSD7 symptoms are Muscle weakness, pain, cramps and stiffness Nausea, and vomiting during exercise GSD7 is caused by harmful changes mutations in the gene for muscle phosphofructokinase PFKM that leads to lowered activity deficiency in the phosphofructokinase enzyme, the protein that breaks down glycogen to glucose.

Introduction GSD7 was first described by Tarui et al. Infant GSD7 This rare type of GSD7 occurs in babies. Symptoms include: Loss of muscle tone hypotonia Muscle weakness including in the heart, called cardiomyopathy Breathing problems that can lead to death before age 1 year Curving of the joints arthrogryposis Intellectual disability Late-onset adult GSD7 This form of GSD7 happens in adults who experience only muscle weakness and pain.

Symptoms of GSD5 are exercise intolerance, muscle cramping and dark, reddish brown-colored urine myoglobinuria Pompe disease is an inherited metabolic disorder caused by the complete or partial deficiency of the enzyme acid alpha-glucosidase also known as lysosomal alpha-glucosidase or acid maltase.

Molecular genetic testing from a blood test can confirm changes in the PFKM gene. Genetic counseling is recommended for individuals with GSD7 and their families. Glycogen storage diseases of muscle. Curr Opin Neurol. Additional Assistance Programs MedicAlert Assistance Program NORD and MedicAlert Foundation have teamed up on a new program to provide protection to rare disease patients in emergency situations.

Rare Caregiver Respite Program This first-of-its-kind assistance program is designed for caregivers of a child or adult diagnosed with a rare disorder. Muscular Dystrophy Association. Phone: Email: resourcecenter mdausa.

Related Rare Diseases: X-Linked Myopathy with Excessive Autophagy , Walker Warburg Syndrome , GNE Myopathy , Association for Glycogen Storage Disease AGSD. In many hereditary metabolic disorders, both parents of the affected child carry a copy of the abnormal gene.

Because usually two copies of the abnormal gene are necessary for the disorder to occur, usually neither parent has the disorder. See also Overview of Hereditary Metabolic Disorders Overview of Hereditary Metabolic Disorders Hereditary metabolic disorders are inherited genetic conditions that cause metabolism problems.

Heredity is the passing of genes from one generation to the next. Children inherit their parents' Glycogen a carbohydrate Carbohydrates Carbohydrates, proteins, and fats are the main types of macronutrients in food nutrients that are required daily in large quantities. read more is made of many glucose molecules linked together.

Any glucose that is not used immediately for energy is held in reserve in the liver, muscles, and kidneys in the form of glycogen and is released when needed by the body. Missing one of the enzymes that is essential to breaking down metabolizing glycogen into glucose.

There are many different glycogen storage diseases also called glycogenoses. Each is identified by a Roman numeral. Some of these diseases cause few symptoms. Others are fatal.

The specific symptoms, age at which symptoms start, and their severity vary considerably between these diseases. For types II, V, and VII, the main symptom is usually weakness myopathy.

For types I, III, and VI, symptoms are low levels of sugar in the blood hypoglycemia Hypoglycemia Hypoglycemia is abnormally low levels of sugar glucose in the blood. Hypoglycemia is most often caused by medications taken to control diabetes.

Much less common causes of hypoglycemia include read more and protrusion of the abdomen because excess or abnormal glycogen may enlarge the liver.

Low levels of sugar in the blood cause sweating, confusion, and sometimes seizures and coma. Other consequences for children may include stunted growth, frequent infections, and sores in the mouth and intestines. Glycogen storage diseases tend to cause uric acid a waste product to accumulate in the joints, which can cause gout Gout Gout is a disorder in which deposits of uric acid crystals accumulate in the joints because of high blood levels of uric acid hyperuricemia.

The accumulations of crystals cause flares attacks read more , and in the kidneys, which can cause kidney stones Stones in the Urinary Tract Stones calculi are hard masses that form in the urinary tract and may cause pain, bleeding, or an infection or block of the flow of urine.