Lactose intolerance innate
This disorder is autosomal recessive. In extremely uncommon instances, infants exhibit symptoms of lactose intolerance upon initiating breastfeeding. On biopsies, their small intestinal cell structure is normal, but their lactase activity is undetectable. This is primarily due to their genetic composition. In these uncommon unfortunate cases, the lactase-phlorizin hydrolase (LPH) gene has recessive alleles that are mutated versions of normal alleles. They may exist in the coding region of the gene as stop codons. These defective alleles manifest as misfolded proteins that lack lactase’s enzymatic activity and are subsequently degraded.
