ARG DEFICIENCY - Overview , Facts, Types, Symptoms, Diagnosis

ARG DEFICIENCY

ARG Deficiency or Arginase deficiency mutates in the ARG1 gene causes this hereditary autosomal recessive genetic disorder. ARG1 mutations cause an inappropriate arginase enzyme to be produced. Moreover, the absence of arginase enzymes causes an abnormal buildup of nitrogen in the blood, arginine in the blood, and cerebrospinal fluid.

SYMPTOMS

The majority of persons with arginase deficiency seem healthy at births and develop normally throughout infancy. In between ages of 1 to 3 years, the first signs of arginase deficiency commonly occur. Nevertheless, symptoms may appear sooner or later in certain situations.

The following are possible signs and symptoms for ARG deficiency:

  • Slowing of growth
  • Muscle spasms and enhanced reflexes
  • Delay in maturation
  • Loss of developmental milestones already attained
  • Intellectual disability
  • Seizures
  • Small head size
  • Problems with coordination and balance

Severe intellectual impairment and muscular stiffness, along with loss of ability to walk and bladder and bowel control, may develop if arginase deficiency is misdiagnosed or if the individual with the condition is unable to maintain the prescribed low-protein diet.

DIAGNOSIS

The presence of arginase deficiency is frequently hypothesized based on the indications and symptoms of the individual. Blood tests to detect arginine and ammonia amounts will then be requested.

Afterward, when genetic testing reveals disease-causing mutations in every copy of the ARG1 gene, or a blood test reveals decreased arginase enzyme activity in red blood cells, the diagnosis of arginase deficiency is established.

TREATMENT

ARG deficiency is treated by lowering plasma ammonia and arginine levels, avoiding the formation of excess ammonia, and limiting the quantity of nitrogen in the diet. Dietary limitations in people with arginase insufficiency are designed to keep arginine and protein consumption to a minimum. For instance, kids with arginase insufficiency are put on a low-protein, arginine-restricted diet with necessary amino acids as a supplement.

Furthermore, intravenous (IV) fluids may be administered to patients with arginase deficiency who suffer bouts of hyperammonemia. Individuals having arginase deficiency are usually admitted to the hospital during an episode of acute hyperammonemia. 

There are also therapies used to quickly lower the blood ammonia levels and avoid brain injury. These therapies may involve:

  • Dialysis
  • Nitrogen-scavenging medicines
  • Intravenous (IV) fluids
  • Other therapies

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