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Glutaric acidemia type 1 (GA1) is an inherited disorder in which the body is unable to completely break down the amino acids lysine, hydroxylysine and tryptophan.Excessive levels of their intermediate breakdown products (glutaric acid, glutaryl-CoA, 3-hydroxyglutaric acid, glutaconic acid) can accumulate and cause damage to the brain (and also other organs [1]), but particularly the basal ...
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.
Maple syrup urine disease can be classified by its pattern of signs and symptoms or by its genetic cause. The most common and severe form of this disease is the classic type, which appears soon after birth, and as long as it remains untreated, gives rise to progressive and unremitting symptoms.
Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency or MCADD) is a disorder of fatty acid oxidation that impairs the body's ability to break down medium-chain fatty acids into acetyl-CoA. The disorder is characterized by hypoglycemia and sudden death without timely intervention, most often brought on by periods of fasting or vomiting.
Methylmalonic acid metabolism including some methylmalonic acidemias. In methylmalonic acidemias, the body is unable to break down properly: essential amino acids: methionine, valine, threonine and isoleucine [39] propionic acid from intestinal fermentation [39] odd-chain fatty acids [39] cholesterol side chain [39]
Type 1 diabetes, also known as "juvenile-onset" diabetes is increasing in children and adolescents under the age of 15. [132] Type 1 diabetes is an autoimmune disease where the body attacks the beta-cells produced by the pancreas; therefore, causing the body to have insulin deficiency. [ 133 ]