Articles tagged with Metabolic Disorders
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Researchers at Heidelberg University Hospital have discovered that the metabolic disease glutaric aciduria type I causes not only acute but also chronic toxic damage to the developing brain. Therapy should be extended to prevent long-term brain damage and should be started early, even before birth.
A study of 2,273 registered nurses found that adverse work schedules, including shift work, overtime, and on-call shifts, significantly impact sleep quality. Nurses with inadequate sleep experience increased risk of needlestick injuries and musculoskeletal disorders, as well as long-term health consequences.
A recent study has found that umbilical cord blood transplants can be a successful treatment option for children with inherited metabolic disorders, offering improved outcomes compared to bone marrow transplants. The procedure has shown advantages in terms of availability and reduced risk of complications.
Researchers have developed a new screening method to detect MCAD deficiency in newborns, reducing the number of undiagnosed cases. Early detection improves treatment options and reduces mortality rates, with one-quarter of patients dying before diagnosis is known.
Researchers conducted a retrospective study of 31 Dutch SCADD patients and their relatives to describe genetic, biochemical, and clinical characteristics. The study found a birth prevalence of at least 1:50,000, with developmental delay, epilepsy, and hypoglycemia being common symptoms.
Despite progress, most US babies are not fully covered under newborn screening programs. Currently, 23 states screen for over 20 disorders, while others have limited or no testing.
Researchers have identified two genes responsible for defects in vitamin B12 metabolism, which can lead to accumulation of methylmalonic acid. This breakthrough could enable DNA testing for carriers and early prenatal diagnosis, providing hope for families affected by the disease.
A new study calls for UK childhood screening of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, a metabolic disorder affecting up to 1 in 9000 people. The condition can be controlled with carbohydrate intake, but severe neurological damage occurs if diagnosed late.