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Behavioral symptoms affect relations with other people and may include short attention span, intractability, and delays in achieving age-appropriate behaviors. Sociability with peers, however, is a strength in GLUT1 deficiency patients. [5] Movement symptoms relate to the quality of motor functions. Walking may be delayed or difficult because ...
A metabolic disorder is a disorder that negatively alters the body's processing and distribution of macronutrients, such as proteins, fats, and carbohydrates.Metabolic disorders can happen when abnormal chemical reactions in the body alter the normal metabolic process. [3]
Mucolipidosis type I (ML I) is an inherited lysosomal storage disease that results from a deficiency of the enzyme alpha-N -acetyl neuraminidase . [1] The lack of this enzyme results in an abnormal accumulation of complex carbohydrates known as mucopolysaccharides, and of fatty substances known as mucolipids. Both of these substances accumulate ...
Common symptoms of ketosis are anorexia, abdominal discomfort, and nausea, sometimes progressing to vomiting. [7] However, the diagnosis of ketotic hypoglycemia poses a challenge to clinicians, given how nonspecific symptoms can be and given that children in this age range are typically unable to describe their symptoms. [2]
Glycogen is a molecule the body uses to store carbohydrate energy. Symptoms of GSD-III are caused by a deficiency of the enzyme amylo-1,6 glucosidase, or debrancher enzyme. This causes excess amounts of abnormal glycogen to be deposited in the liver, muscles, and, in some cases, the heart. [medical citation needed]
Marasmus (deficiency in calorie intake) Marasmic kwashiorkor (marked protein deficiency and marked calorie insufficiency signs present, sometimes referred to as the most severe form of malnutrition) PEU is fairly common worldwide in both children and adults and accounts for about 250,000 deaths annually. [2]
Consistently choosing longer lasting, complex carbohydrates to prevent rapid blood-sugar dips in the event that one does consume a disproportionately large amount of carbohydrates with a meal; Monitoring any effects medication may have on symptoms. [4] Low-carbohydrate diet and/or frequent small meals is the first treatment of this condition ...
Traditionally the inherited metabolic diseases were classified as disorders of carbohydrate metabolism, amino acid metabolism, organic acid metabolism, or lysosomal storage diseases. [4] In recent decades, hundreds of new inherited disorders of metabolism have been discovered and the categories have proliferated.