Tag: Genetic counseling

Affecting less than 1 in 35,000 people of Ashkenazi Jewish descent, E3 deficiency—also known as Dihydrolipoamide Dehydrogenase (DLD) deficiency—is an extremely rare inherited metabolic disorder with no established cure. Treatment for this condition focuses on managing symptoms, preventing severe metabolic episodes, and providing supportive care through a combination of dietary adjustments and supplementation.

Globally, it is estimated that around 307,900 children are born annually with a severe hemoglobin disorder, including thalassemia. For families seeking to understand their risk or manage the condition, learning what to avoid thalassemia, from genetic risks to dietary pitfalls, is crucial for improving health outcomes.

Hereditary folate malabsorption (HFM) is a rare autosomal recessive disorder caused by a defective gene (SLC46A1) that impairs folate transport into the body and brain. Early diagnosis and targeted treatment with reduced folates, such as folinic acid, are critical for correcting both systemic and neurological folate deficiencies. Proper management is essential for preventing severe symptoms, especially in infants who cannot absorb folate from milk or formula after birth.

Genetic metabolic disorders, while rare, can cause severe health complications if not properly managed. A low-protein diet is a cornerstone of treatment for several conditions, including the disease where you can't eat much protein, highlighting the body's inability to process certain amino acids effectively.