Question: What is (are) Arginase deficiency ?
Answer: Arginase deficiency is an inherited metabolic condition in which the body is unable to process the amino acid (a building block of protein), arginine. Consequently, people affected by the condition have high levels of arginine in the blood and may also experience episodes of hyperammonemia (an accumulation of ammonia in the blood). Although most affected people appear healthy at birth, features of arginase deficiency generally develop between ages one and three years. Signs and symptoms may include growth deficiency, spasticity (abnormal tensing of the muscles), developmental delay, loss of developmental milestones, intellectual disability, seizures, and microcephaly. Arginase deficiency is caused by changes (mutations) in the ARG1 gene and is inherited in an autosomal recessive manner. Management is generally focused on lowering arginine levels and preventing hyperammonemia. This may be accomplished through restriction of dietary protein and use of certain medications (called nitrogen-scavenging drugs) under the supervision of a medical team with experience treating metabolic conditions.
Source: GARD

Question: What are the symptoms of Arginase deficiency ?
Answer: What are the signs and symptoms of Arginase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Arginase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aminoaciduria 90% Behavioral abnormality 90% Cognitive impairment 90% Neurological speech impairment 90% EEG abnormality 50% Hemiplegia/hemiparesis 50% Hyperammonemia 50% Seizures 50% Anorexia - Autosomal recessive inheritance - Diaminoaciduria - Hyperactivity - Intellectual disability - Irritability - Oroticaciduria - Postnatal growth retardation - Progressive spastic quadriplegia - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD

Question: What are the treatments for Arginase deficiency ?
Answer: How might arginase deficiency be treated? The treatment and management of arginase deficiency is generally focused on lowering arginine levels and preventing hyperammonemia (an accumulation of ammonia in the blood). This may be accomplished through dietary modifications and the use of certain medications (called nitrogen-scavenging drugs) under the supervision of a medical team with experience treating metabolic conditions. More specifically, people affected by arginase deficiency must restrict dietary protein and arginine. This is often achieved with the use of specialized formulas, which may account for half or more of protein intake. Although people with arginase deficiency are less prone to episodes of severe hyperammonemia than people affected by other urea cycle disorders, special treatment is needed should these episodes occur. During an episode, affected people are generally treated in the hospital and may require dialysis, nitrogen-scavenging medications, intravenous (IV) fluids/feeds and/or other treatments. These treatments are administered with the goal of rapidly reducing blood ammonia levels and preventing neurological damage. GeneReviews offers more specific information on the treatment of arginase deficiency and urea cycle disorders, in general. Please click on the links to access these resources.
Source: GARD