Strange disease causes women to have black urine

A former nurse in Harlow, Essex (England), suffers from a fatty acid metabolism that makes her body unable to move and urine turning black.

Gemma Holtby , 35, suffers from very long chain Acyl-CoA Dehydrogenase enzyme deficiency (VLCAD) , a metabolic disorder that prevents the body from resolving fat to release energy, instead they attack on her muscles every time she is active or stressed.

Normally, the body will use glucose to generate energy for the body. When the amount of glucose is depleted, the body will use the stored energy source from fat instead. If fat cannot be resolved or only partially resolved, the energy produced will not be enough to meet the body's needs. The substance is created when partially broken fat can affect the body.

Gemma is living with her husband and two sons.(Photo: Mercury Press & Media).

For the first time, Gemma Holtby discovered abnormalities of the body in October 2011, about three weeks after giving birth to the second child. She felt the health go down clearly and panic when she discovered that her urine was black. At that time, she thought that the cause could be water, but the pain appeared that made her unable to move.

Gemma Holtby went to the doctor to determine the cause of the condition. Doctors carried out a series of tests and determined that she was severely ill with very rare cases with an incidence of 1 / 140,000.

Doctors said she had to take specialized medicine until the end of her life and had to sit in a wheelchair while moving. In addition, she must also follow a low-fat and carbohydrate-rich diet to help stabilize the condition.

Gemma shared: "Before I was sick, I would never sit still. As a nurse, I had to travel a lot, when I went home, I used to walk with my kids and go to the gym every time Now all I can do is sit in a wheelchair. I can't do those things anymore, my life has changed. "

VLCAD is a genetic disease and her first son, boy Liam is also diagnosed with this disease with milder symptoms.

If early diagnosis and treatment of VLCAD, most patients can still live a normal life. If left untreated, VLCAD can pose a serious threat to health and life such as apnea, cardiac arrest, coma and brain damage.