New Clues About a Rare Gene That Causes Childhood Seizures
Scientists discovered how a faulty gene called ALDH4A1 causes severe seizures in children. Using laboratory cells and mice, researchers found that this gene …
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All content tagged with "rare genetic disorder"
Early Treatment Helps Babies With Rare Metabolic Disorder
Carbonic anhydrase VA deficiency is an extremely rare genetic condition that affects how a baby's body processes certain chemicals, leading to dangerous acid …
Read MoreNew 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 …
Read MoreSpecial Diet Helps Boy With Hard-to-Treat Seizures
Researchers discovered that a special high-fat, low-carb diet called the ketogenic diet may help children with a rare genetic form of epilepsy that doesn't …
Read MoreRare Brain Disorder Found in Boy With Hard-to-Treat Seizures
Doctors in Indonesia discovered a very rare genetic condition in an 11-year-old boy that was causing severe seizures that didn't respond to normal treatments. …
Read MoreNew Drug Cuts Hospital Visits by 84% for Rare Blood Fat Disorder
Researchers tested a new medication called olezarsen on patients with familial chylomicronemia syndrome (FCS), a rare genetic condition where the body can't …
Read MoreNew Treatment Shows Promise for Rare Genetic Disorder
Researchers discovered that adding the amino acid tyrosine to the diet, combined with eating more protein, may help children with a rare genetic condition …
Read MoreA Rare Gene Problem That Mimics Multiple Sclerosis
Doctors usually think that nerve and spinal cord problems in young adults are caused by the immune system attacking the brain. But this case shows something …
Read MoreUnderstanding Geroderma Osteodysplastica: A Rare Genetic Condition
Geroderma osteodysplastica (GO) is an extremely rare inherited condition that affects how the body builds and maintains connective tissues—the materials that …
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 MoreRare Disease Causes Back Pain and Weak Bones in Woman
Doctors found that a 54-year-old woman's chronic back and knee pain was caused by alkaptonuria, a very rare genetic disorder that affects how the body breaks …
Read MoreSimple Supplement Helps Rare Blood Disorder and Liver Health
Researchers studied a rare genetic condition called homocystinuria that causes dangerous levels of a substance called homocysteine in the blood. Fifteen …
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 MoreNew Cholesterol Treatment Shows Promise for Rare Genetic Disorder
Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic condition where the body can't make enough cholesterol properly. Researchers tested a new cholesterol …
Read MoreRare Baby Bone Disease: How Doctors Solved a Medical Mystery
Hypophosphatasia is an extremely rare genetic condition that affects how a baby's body builds bones. In this case study, doctors describe a newborn with …
Read MoreHow a Rare Gene Mutation Caused Seizures in a Girl—and How Doctors Fixed It
A 10-year-old girl developed serious seizures that wouldn't stop, even with multiple medications. Doctors discovered she had a rare genetic condition where her …
Read MoreRare Kidney Problem Linked to Cystinuria Drug Treatment
Doctors are warning about a serious but uncommon side effect from a medication used to treat cystinuria, a rare inherited condition that causes kidney stones. …
Read MoreHow a Rare Gene Change Affects Three Generations of One Family
Researchers studied a family where three generations inherited a change in a gene called GNAS that affects how the body controls calcium and hormones. The …
Read MoreHow Special Diets Help Kids With a Rare Fat-Processing Disorder
Some children are born with a rare condition called MCADD that makes it hard for their bodies to break down certain fats for energy. Doctors treat this with a …
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 Kids With PKU Stay Healthy But Adults Gain Weight
Researchers studied 291 Danish patients with phenylketonuria (PKU), a rare genetic condition where the body can't break down a protein called phenylalanine. …
Read MoreSpecial Supplement Mix May Help Rare Brain Disease
Scientists discovered that a combination of two natural substances—ketone bodies and glutamine—can help restore energy production in brain cells affected by a …
Read MoreRare Zinc Deficiency Causes Serious Skin and Health Problems in Babies
Researchers studied six babies who developed a rare condition called acrodermatitis enteropathica, which happens when the body doesn't get enough zinc. This …
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