Understanding Gyrate Atrophy: A Rare Eye Disease and Treatment Options
Gyrate atrophy is a very rare genetic condition that affects how the body processes certain amino acids, leading to progressive vision loss and other health …
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All content tagged with "rare genetic disease"
New Clues About a Rare Brain Disease in Mice
Scientists studied a rare genetic disease called nonketotic hyperglycinemia, which causes severe seizures in newborns. Using mice with this disease, …
Read MoreNew Treatment Helps People with PKU Eat More Protein
Researchers tested a new medicine called sepiapterin to help people with phenylketonuria (PKU), a rare condition where the body can't process a protein …
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 MoreWhy Kidney Tests May Give Wrong Results in a Rare Bone Disease
Doctors use blood tests to check how well kidneys work, but these tests may not be accurate for people with X-linked hypophosphatemia (XLH), a rare genetic …
Read MoreWhy Rare Bone Disease Weakens Muscles: New Lab Discovery
Scientists discovered how a rare genetic disease called X-linked hypophosphatemia (XLH) damages muscle cells. The disease causes a protein called FGF23 to …
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 Genetic Disorder Causes Low B12 in Young Boy
Doctors discovered a rare genetic condition in a young boy that prevents his body from absorbing vitamin B12 properly. This condition, called …
Read MoreNew Drug Helps Rare Disease Patients Fight Cell Damage
Hereditary tyrosinemia type I is a rare genetic disease where the body can't properly break down a protein building block called tyrosine, leading to dangerous …
Read MoreNew Drug Helps Young Kids With Rare Bone Disease Grow Taller
A rare genetic disease called XLH makes children very short because their bodies can't use phosphate properly. Researchers studied a new medicine called …
Read MoreA Genetic Glitch That Breaks How Your Body Uses Vitamin D
Scientists discovered why some people develop a rare bone disease called type 3 rickets. The problem starts with a tiny change in a gene that controls how the …
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 MoreHow Diet and Heart Medicine Helped a Young Man With a Rare Metabolic Disease
A 20-year-old man with propionic acidemia, a rare genetic condition that affects how the body breaks down certain proteins, developed heart problems. Doctors …
Read MoreWhy Skipping Medicine Almost Killed a Man With Rare Tyrosinemia
A man with a rare genetic condition called tyrosinemia type 1 stopped taking his prescribed medication and following his special diet. This led to a …
Read MoreRare Disease Causes Anemia for 12 Years: Here's What Doctors Learned
A 15-year-old boy from Iran had a mysterious condition for 12 years that made him tired, weak, and anemic. Doctors discovered he had Imerslund-Gräsbeck …
Read MoreNew Genetic Clues Found in Rare B12 Metabolism Disorder
Researchers studied 29 patients with a rare genetic condition called cblG that affects how their bodies use vitamin B12. By analyzing their genes, scientists …
Read MoreWhat Happens When a Bone Disease Medicine Stops Working?
A 36-year-old woman with a rare genetic bone disease called X-linked hypophosphatemia (XLH) was treated with a new medicine called burosumab that helped her …
Read MoreSpecial Diet May Help Rare Brain Disease, But Results Are Mixed
Researchers tested whether limiting certain amino acids in food could help three patients with ethylmalonic encephalopathy (EE), a rare genetic disorder that …
Read MoreRare Genetic Condition Causes Low Magnesium and Seizures in Babies
Researchers discovered a new genetic mutation in a baby girl who had dangerously low levels of magnesium and calcium in her blood, which caused seizures. This …
Read MoreNew Hope for Homocystinuria: Breakthrough Treatments on the Horizon
Homocystinuria is a rare genetic condition where the body can't properly break down certain amino acids, causing harmful buildup in the blood. Without …
Read MoreRare Disease Finally Diagnosed After 16 Years of Wrong Treatment
A 33-year-old man spent 16 years getting surgery for calcium deposits in his body, but doctors had missed the real problem: a rare genetic condition called …
Read MoreVitamin B12 May Help Treat a Rare Genetic Disease
Scientists discovered that a rare genetic disease called Verheij syndrome, caused by problems with how cells process genetic instructions, might be helped by …
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 MoreRare Brain Disease in Babies: New Findings on Causes and Treatment
Researchers studied four children with a rare genetic condition that affects how their bodies use energy, called pyruvate dehydrogenase deficiency. This …
Read MoreScientists Find New Way to Test Treatments for Rare Genetic Disease
Researchers developed a new testing method to find better treatments for alkaptonuria, a rare genetic disease that affects how the body breaks down certain …
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