Early Detection Saves Lives in Rare Galactosemia Condition
Researchers studied 59 infants with classical galactosemia, a rare genetic condition where the body cannot properly process a natural sugar called galactose. …
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All content tagged with "metabolic disorder"
A Hidden Cause of Dangerously High Fat in Young Adults
Doctors often see young people with extremely high levels of fat (triglycerides) in their blood and assume it's from diet or lifestyle. But this case report …
Read MoreHidden Health Problems Found in People With Rare Fructose Disorder
Researchers discovered that people with hereditary fructose intolerance (HFI), a rare genetic condition, develop hidden health problems even when carefully …
Read MoreEarly 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 MoreUnderstanding 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 …
Read MoreA Special Diet Helps Kids with a Rare Brain Condition
Researchers in Argentina studied 39 children with a rare condition called Glut1DS, which affects how the brain uses sugar for energy and can cause seizures and …
Read MoreNew 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 MoreScientists 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 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 MoreWhy Some Babies With Vitamin B12 Problems Get Missed at Birth
Doctors use newborn screening tests to catch serious health problems early, including a rare vitamin B12 disorder called CblC deficiency. However, standard …
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 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 MoreHow a Virus May Affect Your Body's Vitamin B2 Processing
Scientists discovered that a virus called hepatitis E, which can spread from pigs to humans, may interfere with how your body uses vitamin B2 (also 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 MoreSpecial Protein Drink Helps PKU Patients Get Missing Nutrients
People with phenylketonuria (PKU) who can eat more regular foods sometimes miss out on important nutrients because they eat less special protein products. …
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 Genetic Disorder Causes Seizures and Muscle Problems in Newborn
Doctors discovered a newborn baby with a rare genetic condition called Pyridoxine-Dependent Epilepsy (PDE) that caused seizures, muscle breakdown, and …
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 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 MoreSpecial Diet for Rare Condition Doesn't Cause Eating Problems
Children and young adults with a rare genetic condition called MCADD need to follow a special diet to stay healthy. Doctors worry that strict diets during …
Read MoreHow Diabetes Changes Protein Recycling in Your Liver
Scientists discovered that when people develop diabetes, their liver cells change how they recycle and break down proteins in ways that affect how the body …
Read MoreDoctors Need Better Training on PKU Diet Management
A new study from Saudi Arabia found that many doctors and dietitians don't fully understand how to help patients with phenylketonuria (PKU), a rare genetic …
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