ISOVALERIC ACIDAEMIA

Overview and Facts

Isovaleric acidaemia is a relatively uncommon condition where the body cannot effectively degrade a specific protein-building component (amino acid). To put it another way, it is an organic acid disease, which is a problem that involves an abnormal accumulation of organic acids. Organo-acidemia, organo-aciduria, and organo-acidemia in the cells can all be hazardous and lead to significant health complications.

Amino acids are the minor components of proteins that the body dissolves typically from meals. Amino acids could be further metabolized as an energy source for progress and expansion. Individuals with isovaleric acidemia lack an enzyme that breaks down leucine, a specific amino acid.

Types and Symptoms

TYPES

Isovaleric acidaemia (IVA) can be divided into two types based on the age at which symptoms first appear. Symptoms may emerge around 14 days into a baby’s existence. The other kind of IVA, chronic or intermittent IVA, does not occur until later in childhood or infancy. The symptoms of both types of IVA are similar. However, the signs of chronic or intermittent IVA have become less severe than those of IVA in infants.

SYMPTOMS

Isovaleric acidaemia is characterized by various symptoms and indicators (IVA). Some of these characteristics may vary from person to person. People might have a wide range of symptoms, from minor to severe. Each sign listed in the disease has still not been included in this list.

Among the possible symptoms:

  • Tremor
  • Vomiting
  • Loss of motivation
  • Unhealthy nutrition
  • Muscle mass is weak.
  • The stench of wet, stinky feet

Diagnosis & Medications

DIAGNOSIS

An IVA diagnosis is made using the patient’s symptoms, clinical examination, and blood and urine analysis. Using genetic testing findings to confirm the diagnosis may be helpful.

Additionally, IVA can be detected by analyzing a newborn’s blood sample. Some newborns that test positive for IVA may never show any symptoms.

  • Testing Resources
  • Newborn Screening

TREATMENT

IVA treatment focuses on alleviating symptoms and preventing a metabolic catastrophe. Suppose the disease is diagnosed and treated early. In that case, it can achieve a better outcome. Medications and a nutrient-rich diet are used to lower the quantity of isovaleric acid in the body. 

Isovaleric acidaemia is treated expressly by a broad spectrum of specialists, including:

  • Nutritionist
  • Neurologist
  • Gastroenterologist
  • Therapist of the body
  • Expert in medical and metabolic genetics

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