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Items: 13

1.

Glycogen storage disease type X

Phosphoglycerate mutase deficiency is a disorder that primarily affects muscles used for movement (skeletal muscles). Beginning in childhood or adolescence, affected individuals experience muscle aches or cramping following strenuous physical activity. Some people with this condition also have recurrent episodes of myoglobinuria. Myoglobinuria occurs when muscle tissue breaks down abnormally and releases a protein called myoglobin, which is processed by the kidneys and released in the urine. If untreated, myoglobinuria can lead to kidney failure.In some cases of phosphoglycerate mutase deficiency, microscopic tube-shaped structures called tubular aggregates are seen in muscle fibers. It is unclear how tubular aggregates are associated with the signs and symptoms of the disorder. [from GHR]

MedGen UID:
120613
Concept ID:
C0268149
Disease or Syndrome
2.

Myoglobinuria

Presence of myoglobin in the urine. [from HPO]

MedGen UID:
44557
Concept ID:
C0027080
Finding
3.

Glycogen storage disease

A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement. [from MeSH]

MedGen UID:
6639
Concept ID:
C0017919
Disease or Syndrome
4.

Exercise intolerance

MedGen UID:
505555
Concept ID:
CN003200
Finding
5.

Myalgia

MedGen UID:
368426
Concept ID:
C1963177
Finding
6.

Exercise intolerance

MedGen UID:
66841
Concept ID:
C0241885
Sign or Symptom
7.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
8.

Metabolic disease

Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues, such as your liver, muscles, and body fat. A metabolic disorder occurs when abnormal chemical reactions in your body disrupt this process. When this happens, you might have too much of some substances or too little of other ones that you need to stay healthy. . You can develop a metabolic disorder when some organs, such as your liver or pancreas, become diseased or do not function normally. Diabetes is an example. .  [from MedlinePlus]

MedGen UID:
44376
Concept ID:
C0025517
Disease or Syndrome
9.

Exercise-induced myalgia

The occurrence of an unusually high amount of muscle pain following exercise. [from HPO]

MedGen UID:
505583
Concept ID:
CN003377
Finding
10.

Exercise-induced muscle cramps

Sudden and involuntary contractions of one or more muscles brought on by physical exertion. [from HPO]

MedGen UID:
505579
Concept ID:
CN003353
Finding
11.

Glycogen phosphorylase kinase deficiency

Phosphorylase kinase (PhK) deficiency causing glycogen storage disease type IX (GSD IX) results from deficiency of the enzyme phosphorylase b kinase, which has a major regulatory role in the breakdown of glycogen. The two types of PhK deficiency are liver PhK deficiency (characterized by early childhood onset of hepatomegaly and growth retardation, and often, but not always, fasting ketosis and hypoglycemia) and muscle PhK deficiency, which is considerably rarer (characterized by any of the following: exercise intolerance, myalgia, muscle cramps, myoglobinuria, and progressive muscle weakness). Symptoms and biochemical abnormalities of liver PhK deficiency are thought to improve with age. [from GeneReviews]

MedGen UID:
468559
Concept ID:
C0268147
Disease or Syndrome
12.

Deficiency of phosphoglycerate kinase

Phosphoglycerate kinase deficiency is a genetic disorder that affects the body's ability to break down the simple sugar glucose, which is the primary energy source for most cells. Researchers have described two major forms of the condition. The most common form is sometimes called the hemolytic form. It is characterized by a condition known as chronic hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely. Chronic hemolytic anemia can lead to unusually pale skin (pallor), yellowing of the eyes and skin (jaundice), fatigue, shortness of breath, and a rapid heart rate. Some people with the hemolytic form also have symptoms related to abnormal brain function, including intellectual disability, seizures, and stroke.The other form of phosphoglycerate kinase deficiency is often called the myopathic form. It primarily affects muscles, causing progressive weakness, pain, and cramping, particularly with exercise. During exercise, muscle tissue can be broken down, releasing a protein called myoglobin. This protein is processed by the kidneys and released in the urine (myoglobinuria). If untreated, myoglobinuria can lead to kidney failure.Most people with phosphoglycerate kinase deficiency have either the hemolytic form or the myopathic form. However, other combinations of signs and symptoms (such as muscle weakness with neurologic symptoms) have also been reported.
[from GHR]

MedGen UID:
146886
Concept ID:
C0684324
Disease or Syndrome; Pathologic Function
13.

HNSHA due to aldolase A deficiency

Aldolase A deficiency is an autosomal recessive disorder associated with hereditary hemolytic anemia (Kishi et al., 1987). [from OMIM]

MedGen UID:
82895
Concept ID:
C0272066
Disease or Syndrome
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