Phenylketonuria (PKU)
Phenylketonuria (PKU) is a rare but serious autosomal recessive metabolic disorder that affects the body's ability to metabolize the amino acid phenylalanine. Without prompt diagnosis…
Lysosomal Alpha-1,4-Glucosidase Deficiency (Pompe Disease)
Lysosomal alpha-1,4-glucosidase deficiency, also known as Pompe disease or Glycogen Storage Disease Type II (GSD II), is a rare genetic disorder caused by a deficiency…
Hyperammonemia Due to Methylmalonic Acidemia
Hyperammonemia due to methylmalonic acidemia (MMA) is a rare yet serious metabolic disorder characterized by elevated ammonia levels in the blood. This condition arises from…
Homocystinuria Type III: Causes, Symptoms
Homocystinuria type III is a rare metabolic disorder characterized by elevated homocysteine levels in the blood. This condition results from mutations in the MTHFR gene,…