Myxedema Coma
Myxedema coma is a rare but life-threatening complication of severe hypothyroidism, characterized by altered mental status, hypothermia, and multi-organ dysfunction. It is considered an endocrine…
Methylmalonic Acidemia
Methylmalonic acidemia (MMA) is a rare inherited metabolic disorder that affects the body’s ability to break down certain proteins and fats. It results from a…
Isovaleric Acidemia: Causes, Symptoms, Diagnosis
Isovaleric acidemia (IVA) is a rare autosomal recessive metabolic disorder caused by a deficiency of the enzyme isovaleryl-CoA dehydrogenase. This enzyme is essential for breaking…
Hyperammonemia: Causes, Symptoms
Hyperammonemia is a metabolic disorder characterized by elevated ammonia levels in the blood. Ammonia, a byproduct of amino acid metabolism, is typically converted to urea…
Homocystinuria: Causes, Symptoms, Diagnosis, and Treatment
Homocystinuria is a rare genetic disorder characterized by the inability of the body to properly process the amino acid methionine. It results from mutations in…
Hereditary Orotic Aciduria Type I
Hereditary orotic aciduria type I is a rare autosomal recessive metabolic disorder characterized by a deficiency in the enzyme uridine monophosphate synthase (UMPS). This condition…
Deficiency of bile acids due to peroxisomal disorder
Peroxisomal disorders are a group of inherited metabolic diseases characterized by dysfunctional peroxisomes, cellular organelles essential for lipid metabolism, including bile acid synthesis. A deficiency…
Carbamoyl phosphate synthetase deficiency
Carbamoyl phosphate synthetase deficiency (CPS1 deficiency) is a rare genetic disorder that disrupts the urea cycle, leading to an inability to effectively eliminate ammonia from…
Biotinidase deficiency
Biotinidase deficiency (BTD) is a rare genetic disorder that affects the body’s ability to recycle biotin, a crucial water-soluble vitamin also known as vitamin B7.…