How do you test a person to see if they have Zellweger syndrome?

Answer 1

You can't test for it but look for these symptoms etc.:

Zellweger syndrome is an inherited peroxisomal metabolic disorder. Peroxisomes are found in almost all body cells and are responsible for many important cell processes. Zellweger syndrome causes a defect in the peroxisomes, which affects the body severely.

Zellweger syndrome is estimated to occur in 1 of every 50,000 to 100,000 births. It affects both males and females and is present at birth.

Symptoms

Zellweger syndrome affects many parts of the body, including:

• Head and face - enlarged head, high forehead, large anterior fontanelle ("soft spot"), malformed ear lobes, flat-looking face
• Brain and nervous system - abnormal brain development leads to seizures, hearing and vision impairment, profound mental retardation and developmental delay, diminished or absent reflexes
• Liver - enlarged liver with impaired function, jaundice
• Kidneys - renal cysts, hydronephrosis
• Muscles and bones - very low muscle tone (hypotonia), bone defects in the hands, legs, and feet

Diagnosis

The distinctive shape of the head and face of the infant born with Zellweger syndrome provides a clue to the diagnosis. Zellweger syndrome causes the build-up of very-long-chain fatty acids (VLCFA), so a test for VLCFA can help confirm the diagnosis. This and other highly specialized biochemical and genetic tests can be done at certain testing centers.

Treatment

Despite the progress research has made in understanding Zellweger syndrome, no cure yet exists, and infants born with the disorder usually die within the first year of life. Medical care focuses on treating the symptoms present, such as liver dysfunction and seizures. Changing the amount of VLCFA in the diet has not been shown to be an effective treatment.

In addition, physical, occupational, and speech therapy can assist with feeding and comfort issues.

Genetic counseling

Parents should receive genetic counseling, since Zellweger syndrome is inherited in a autosomal recessive manner. This means that both parents are carriers of the defective gene, and each future child has a 25% chance of being born with Zellweger syndrome.