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Galactosemia, the inability to metabolize galactose in liver cells, is the most common monogenic disorder of carbohydrate metabolism, affecting 1 in every 55,000 newborns. [2] When galactose in the body is not broken down, it accumulates in tissues. The most common signs are failure to thrive, hepatic insufficiency, cataracts and developmental ...
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.
Symptoms in dogs include acute arthritis, anorexia and lethargy. There is no rash as is typically seen in humans. [11] Ehrlichiosis is a disease caused by Ehrlichia canis and spread by the brown dog tick, Rhipicephalus sanguineus. Signs include fever, vasculitis, and low blood counts. [6]
A congenital disorder of glycosylation (previously called carbohydrate-deficient glycoprotein syndrome) is one of several rare inborn errors of metabolism in which glycosylation of a variety of tissue proteins and/or lipids is deficient or defective.
Late-onset PFK deficiency, as the name suggests, is a form of the disease that presents later in life. Common symptoms associated with late-onset phosphofructokinase deficiency are myopathy, weakness and fatigue. Many of the more severe symptoms found in the classic type of this disease are absent in the late-onset form. [citation needed]
The most common signs of hypothyroidism are dermatological and changes relating to the decreased metabolism. [2] In one study the most common symptoms were dermatological conditions, obesity, and lethargy. Nearly 9/10 dogs had dermatological symptoms, lethargy and obesity were observed in almost half of all dogs. [4]
Most individuals with G6PD deficiency are asymptomatic.When it induces hemolysis, it is usually is short-lived. [5]Most people who develop symptoms are male, due to the X-linked pattern of inheritance, but female carriers can be affected due to unfavorable lyonization or skewed X-inactivation, where random inactivation of an X-chromosome in certain cells creates a population of G6PD-deficient ...
Dynamic symptoms of exercise intolerance (e.g. muscle fatigue and cramping) with or without fixed proximal muscle weakness: Another glycogen storage disease that affects muscle (muscle GSD); Metabolic myopathy other than glycogen storage disease; Endocrine myopathy that affects carbohydrate metabolism secondary to the primary disease;