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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Hidden 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 MoreToo Much Calcium Can Happen by Accident in Kids With Rare Bone Disease
A 6-year-old boy with a rare condition called HDR syndrome that affects how his body handles calcium became dangerously sick twice from having too much calcium …
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 MoreA Rare Genetic Disorder That Affects Muscles and Heart Later in Life
Doctors discovered a woman in her 30s with a rare genetic condition that affects how her cells produce energy. This condition, called mitochondrial phosphate …
Read MoreVitamin C May Help Protect Cells in a Rare Genetic Condition
Scientists discovered that people with a rare genetic condition called HO-1 deficiency have low levels of vitamin C in their cells, which makes them vulnerable …
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