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Myopathy: Exercise intolerance, symptoms tend to improve with rest. "Second wind" phenomenon in most. Some have hypertrophic calf muscles. [16] Rhabdomyolysis and myoglobinuria possible. Some have muscle weakness. Of those with muscle weakness, in two-thirds it worsens, however in some the muscle weakness is stable. Onset forms: infant, child ...
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. Congenital disorders of glycosylation are sometimes known as CDG syndromes.
In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or due to the effects of reduced ability to synthesize essential compounds. Inborn errors of metabolism are often referred to as congenital metabolic diseases or inherited metabolic disorders. [2]
Ketotic hypoglycemia classically presents in male young children, typically between the ages of 10 months and 6 years, in the morning after a prolonged overnight fast. Symptoms include those of neuroglycopenia, ketosis, or both. [6] [7] Neuroglycopenic symptoms usually include lethargy and malaise, but may include unresponsiveness or seizures.
Gal-1-P is assumed as to be a toxic agent, since the inhibition of the Galactokinase prevents toxicity in disease's models, [5] [6] although this is controversial for Drosophila models. [7] Phosphate depletion as a consequence of Gal-1-P is also proposed as a mechanism of toxicity in yeast models.
Organs often affected in children with kwashiorkor include the kidneys, pancreas, heart, and nervous system. [3] Other findings that may be encountered on physical exam include a distended abdomen, hair thinning, loss of teeth, skin or hair depigmentation, and dermatitis. Children with kwashiorkor often develop irritability and anorexia ...
Symptoms Definition/Explanation Lactic Acidosis High levels of lactate in the blood; can cause nausea, vomiting, breathing problems, abnormal heartbeats *In less severe cases, signs of lactic acidosis can include ataxia and episodes may only occur when ill, under stress, or after consuming high amounts of carbohydrates. Hyperammonemia
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 ...