Arginase deficiency (Arginemia)

Below you will find more information about Arginase deficiency (Arginemia) from Medigest. If you believe that you are suffering from any of the symptoms of Arginase deficiency (Arginemia) it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Arginase deficiency (Arginemia) and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Arginase deficiency (Arginemia) comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

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.

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.

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.

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.

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