Prenatal Treatment of Methylmalonic Acidemia
Methylmalonic acidemia (MMA) is a rare but serious genetic metabolic disorder that affects the body’s ability to break down certain fats and proteins. This condition…
Glutaric Aciduria Type II: Causes, Symptoms, Diagnosis
Glutaric Aciduria Type II (GA-II), also known as Multiple Acyl-CoA Dehydrogenase Deficiency (MADD), is a rare inherited metabolic disorder characterized by impaired fatty acid, amino…
Generalized Lipodystrophy: Causes, Symptoms, Diagnosis
Generalized lipodystrophy is a rare metabolic disorder characterized by near-total loss of adipose tissue across the body. This results in severe insulin resistance, metabolic complications,…
Diagnostic test for ketonuria
Diagnostic test for ketonuria refers to the presence of ketone bodies in urine, often associated with metabolic conditions such as diabetes and severe insulin resistance.…