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Arginase deficiency (Arginemia)



Arginase deficiency (Arginemia) Causes


Here is a list of several causes of Arginase deficiency (Arginemia): Aminoaciduria – a disorder in protein metabolism where extra amino acids are present in the urine. Ammonia levels raised (blood) – increased level of ammonia in the blood which is a metabolic disorder. Fits – also another term for seizures Learning incapacity/Learning disability Spastic ataxia - unusual increase in smooth or skeletal muscle tone.


Arginase deficiency (Arginemia) Definition


A hereditary disorder, that causes high level of arginine in the blood. Death is the result for total deficiency while partial deficiency causes hyperammonemia, metabolic alkalosis, convulsions, hepatomegaly, mental retardation and failure to grow.


Arginase deficiency (Arginemia) Diagnosis


Around the age of 3 Argeninemia is already obvious. The most evident symptom is stiffness, particularlyin the legs, due to unusual tensing of the muscles or spasticity. Here is a list of some of the other symptoms of Arginase deficiency: Slower than normal growth Developmental delay and eventual loss of developmental milestones Retardation mentally Fits/seizures tremble/shiver/tremor Difficulty with balance and coordination (ataxia) Ammonia can accumulate quickly in the blood because of fasting or high protein meals. The fast increase in ammonia may lead to a series of irritability, vomiting and refusal to eat. The symptoms may not be worse for some infected individuals and might not appear until later in life.


Arginase deficiency (Arginemia) Prevalence


An estimation of 1 per 300,000 – 1,000,000 people have this deficiency. In the US approximately 1 in 300,000 or 0.00% or 906 people is affected by this deficiency.


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