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…
Benign cystinosis with corneal cystine crystal accumulation
Benign cystinosis with corneal cystine crystal accumulation is a rare genetic disorder characterized by the deposition of cystine crystals in the cornea. Unlike nephropathic cystinosis,…
Cinca syndrome
Cinca Syndrome, also known as Chronic Infantile Neurological Cutaneous Articular Syndrome, is a rare genetic disorder that affects multiple systems in the body. It is…
Carnitine deficiency
Carnitine deficiency is a metabolic condition that occurs when the body lacks sufficient carnitine, a compound essential for energy production. This article explores its causes,…