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Glutaric Aciduria

Metabolic crisis

Source: NHS

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Children with GA1 may have episodes known as a metabolic crisis, sometimes early in their life. Symptoms of a metabolic crisis include:

  • poor feeding or loss of appetite
  • lack of energy
  • abnormal movements
  • vomiting
  • irritability
  • breathing difficulties

Its important to get medical help immediately if your baby develops symptoms of a metabolic crisis. Your doctor will give you advice to help recognise the signs.

In some cases, a metabolic crisis may be triggered later in childhood by an infection or illness. The hospital should provide you with emergency treatment instructions to follow if your child is ill, which helps to prevent these symptoms developing.

Articles for Glutaric Aciduria

Diagnosing GA1

At around five days old, babies are now offered newborn blood spot screening to check if they have GA1. This involves pricking your babys heel to collect drops of blood to test. If GA1 is diagnosed,

How GA1 is inherited

The geneticcause (mutation)of GA1 is passed on by the parents, who usually dont have any symptoms of the condition. The way this mutation is passed on is known as autosomal recessive inheritance. Thi

Information about you

If you or your child has GA1, your clinical team will pass information about you/your child on to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS). This helps scientis

Introduction

Glutaric aciduria type 1 (GA1) is a rare but serious inherited condition. It means the body cant process certain amino acids, causing a harmful build-up of substances in the blood and urine.

Metabolic crisis

Children with GA1 may have episodes known as a metabolic crisis, sometimes early in their life. Symptoms of a metabolic crisis include: poor feeding or loss of appetite lack of energy abnormal mov

Symptoms of GA1

Symptoms of GA1 usually dont appear until a few months after birth, although some babies are born with a larger-than-average head (macrocephaly). Children with GA1 may develop some floppiness or weak

Treating GA1

Diet Children diagnosed with GA1 are referred to a specialist metabolic dietitian and given a low-protein diet. This is tailored to reduce the amount of amino acids your baby receives, especially lys