New Hope for Rare Calcium Disorder in Babies
Two infant sisters were born with a rare genetic condition that made their bodies unable to keep calcium levels normal, causing dangerous seizures. Doctors …
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All content tagged with "genetic mutation"
Scientists Find New Genetic Cause of Rickets Disease
Researchers have discovered a completely new way that rickets—a bone disease that weakens children's bones—can develop. Instead of just lacking vitamin D, some …
Read MoreRare Gene Mutation Causes Severe Vitamin Absorption Problem in Young Woman
Doctors discovered why a young woman had struggled with severe vitamin deficiencies since infancy. Using genetic testing at age 18, they found she had a rare …
Read MoreNew Gene Mutation Found in Amish Children with Pancreatic Problems
Researchers discovered a new genetic mutation that causes a rare condition where children can't properly digest fats. The mutation affects a protein called …
Read MoreWhy Some Bleeding Disorders Don't Fully Respond to Vitamin K
Researchers discovered why some people with a rare bleeding disorder don't fully benefit from vitamin K treatment. By studying a patient with two genetic …
Read MoreRare Genetic Disorder Found: New Mutation Discovered in Young Woman
Doctors discovered a new genetic mutation in a 19-year-old girl that causes a rare condition called Fanconi-Bickel syndrome. This condition affects how the …
Read MoreRare Gene Mutation Causes Low Magnesium and Calcium in Infants
Doctors discovered a new genetic mutation that prevents babies from absorbing enough magnesium and calcium from food, which can cause dangerous seizures. A …
Read MoreWhy One Kitten Couldn't Close Her Mouth: A Vitamin D Mystery
Doctors discovered that an 11-month-old kitten had a rare genetic problem that prevented her body from using vitamin D properly, even though she was eating a …
Read MoreNew Hope for Rare Seizure Disorder: Scientists Find Better Treatment
Researchers discovered a promising new approach to treat a rare genetic seizure disorder called pyridoxine-dependent epilepsy (PDE). Currently, patients with …
Read MoreRare Genetic Condition Causes Protein in Urine and B12 Problems
Doctors discovered that a young boy's dark urine was caused by a rare genetic condition called Imerslund-Gräsbeck syndrome (IGS). This condition makes it hard …
Read MoreWhy Your Brain Needs Vitamin B6 to Stop Seizures
Scientists discovered that vitamin B6 plays a crucial role in preventing seizures by helping special brain cells called GABAergic neurons work properly. Using …
Read MoreRare Tumor Condition: When Multiple Glands Go Wrong
Doctors in China reported an unusual case of a 44-year-old man with a rare genetic condition called MEN-1 that caused tumors in multiple glands throughout his …
Read MoreRare Vitamin B12 Disorder Found in Teen with Mystery Stomach Pain
Doctors discovered a very rare genetic condition in a 15-year-old boy who had suffered from severe stomach pain attacks since he was one year old. The …
Read MoreWhy Overworked Nerve Cells Run Out of Fuel
Scientists discovered that when nerve cells in the brain and spine try to work harder to compensate for broken energy factories (mitochondria), they create a …
Read MoreRare Gene Mutation Found in Newborn With Dangerously High Fat Levels
Doctors discovered a brand-new genetic mutation in a newborn baby that caused extremely high levels of fat in the blood—a condition so rare that this specific …
Read MoreGene Mutation Affects Pregnancy Even With Enough Folate
Scientists studied a common gene mutation called MTHFR C677T that affects how the body processes folate, a vitamin important for pregnancy. They wanted to see …
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