Tag: Rare genetic disorder

Hereditary Folate Malabsorption (HFM) is a rare genetic disorder, with only about 60 cases reported worldwide, that prevents the body from properly absorbing and transporting folate. This inherited condition manifests early in life and is distinctly different from folate deficiency caused by a poor diet.

According to the National Institutes of Health, all newborns in the United States are screened for Phenylketonuria (PKU), making early diagnosis and dietary management standard practice. The cornerstone of treating this genetic disorder is a strictly controlled diet for PKU elimination, which limits the intake of the amino acid phenylalanine (Phe) to prevent serious health issues.

Fanconi Bickel syndrome (FBS) is a rare inherited metabolic disorder, with a mutation in the SLC2A2 gene identified in numerous cases. A specialized diet is a primary form of management for FBS, focusing on galactose restriction and frequent feeding to stabilize blood glucose levels and reduce symptoms.

According to the NIH, all newborns in the United States are screened for Phenylketonuria (PKU), a rare genetic disorder where the body cannot properly break down the amino acid phenylalanine. To prevent the build-up of this amino acid, individuals with PKU must adhere to a strict, lifelong diet, carefully monitoring and avoiding specific foods and ingredients.

Carnitine palmitoyltransferase II (CPT2) deficiency is a rare genetic disorder of fat metabolism, with less than 1,000 confirmed cases globally. For individuals with this condition, understanding **what foods should you avoid if you have Cpt2** is the most critical step in managing the disorder and preventing metabolic crises.