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B12 Breakthrough

A recent discovery identifies a rare genetic defect for the first time ever.
A recent discovery identifies a rare genetic defect for the first time ever.

Ten-year-old max plays the keyboard with his head, the drum with his foot, and communicates by computer with his elbows.Submit

“He’s amazing because through all these challenges he’s still so smart,” Abbey Watson, Max’s Sister said.

It took nearly ten years after max was born for doctors at the University of Colorado School of Medicine to identify the cause of his disease.

He is the first of 14 boys to be diagnosed with Cobalamin-X, a rare disease in which his cells cannot properly process vitamin b12—leading to a buildup of toxins in the body.

Submit“We were told he was one of 250 in the world when he was four months old,” Deana Watson said.

Eventually 13 others were identified, but Max’s symptoms were more severe than the others. Doctors were stymied.

Using blood samples from Max and his parents, researchers sequenced millions of tiny pieces of DNA, every gene, and discovered a mutation on Max’s X chromosome.

“Low and behold, we sequence this same gene in which we found a flaw in Max. The other 13 boys had flaws in that same gene. That was the ‘ah-ha’ moment,” Tamim H. Shaikh, PhD, Associate Professor of Pediatrics, University of Colorado School of Medicine, told said.

“All parents wonder what impact their child is going to have on the world and Max has altered medical history,” Steve Watson, Max’s dad said.

The findings, while important to science, do not change things for Max. The hope is that one day doctors will be able to predict and maybe even prevent such birth defects by sequencing the entire human genome of parents in advance.

BACKGROUND: Vitamin B12 is a supplement that works to support healthy nerve and blood cells. This nutrient also aids in prevention of megaloblastic anemia that causes people to feel weak and tired. Vitamin B12 is found in foods such as clams, beef liver, eggs, milk, poultry, meat, and fish, but many individuals decide to take an added dose of B12 to support a fast metabolism and gain an increase of energy. The B12 nutrient also counters dementia, improves athletic performance, and heart disease and has not shown any signs of harmful effects. (Source: http://ods.od.nih.gov/factsheets/VitaminB12-QuickFacts/)

SYMPTOMS OF VITAMIN B12 DEFICIENCY: If a person is to have a vitamin B12 deficiency, it can mean a number of different things. Though it is extremely rare for a person to have a low count of B12, it is seen more in the elderly, HIV-infected individuals, and vegetarians. Symptoms of vitamin B12 deficiency include:

• Difficulty walking

• Memory loss, dementia and disorientation

• Tingling or numbness in toes and fingers

• Depression or mood changes (Source: http://www.webmd.com/food-recipes/guide/vitamin-b12-deficiency-symptoms-causes)

BIRTH DEFECTS: Pregnant women who are vitamin B12 deficient run the risk of giving birth to a baby with birth defects. A study shows that B12 deficiency in early pregnancy increased the risk for delivering a baby with a birth defect up to five times. Spina bifida is a common birth defect to babies who are born with a deficiency of vitamin B12. Women who are pregnant are advised to eat foods that are rich in vitamin B12 or take supplements that will provide them with the nourishment they need to reduce the risk of birth defects.

SPINA BIFIDA: Spina bifida, meaning split spine is the most common birth defect caused by a vitamin B12 deficiency. This occurs when the baby is in the womb and the spinal cord does not close all of the way. This defect may cause paralysis and anencephaly which is a fatal condition that includes underdevelopment in the brain and the skull. To treat the defect, surgery is performed two to three days after surgery. To prevent any defects, folic acid, and B12 consumption are strongly recommended
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