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You must have recently heard about an Australian bodybuilder, Meegan Hefford, who died after consuming a significant amount of protein from food and dietary supplements. She was a 25-year-old mother of two. However, a noteworthy fact that her family is speaking of now is that she used to suffer from a rare genetic condition that prevented her body from breaking down the nutrient properly. This rare genetic condition is called Urea Cycle Disorder. Here are things you should know about this rare condition:
What is Urea Cycle Disorder?
It is a genetic disorder caused by a mutation which results in a deficiency of one of the six enzymes in the urea cycle. Body's urea cycle involves steps in which nitrogen(a waste product) is removed from the body. It is transferred into urine and eliminated from the body. If you suffer from the urea cycle disorders, the nitrogen collects as ammonia(a highly toxic substance) and elevates blood ammonia which might reach the brain and can be fatal.
The symptoms of these disorders are categorised into different age groups, says Dr Vinod Yadav from SRTR Medical College. Here are a few symptoms that one should watch out for:
Neonatal period: Infants with severe urea cycle disorders show symptoms after the first 24 hours of life, and they might feel irritable, refuse to be fed, vomit excessively, Sometimes seizures, hypotonia and respiratory problems may also occur.
Childhood: Some recognisable symptoms during childhood could be continuous crying, agitation or hyperactive behaviour. Refusal to eat high protein foods, lethargy and vomiting would still be one of the major symptoms.
Adults: Disorientation, confusion, slurred speech, agitation, stroke-like symptoms and lethargy are some of the symptoms that one should watch out for. Some psychiatric symptoms like schizophrenia and bipolar disorder are observed too among a few patients.
Image: Meegan Hefford/Instagram
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