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…
Ichthyosiform Erythroderma: Causes, Symptoms
Ichthyosiform erythroderma is a rare genetic skin condition that manifests as widespread redness, scaling, and thickened skin. It is often categorized under congenital ichthyoses, a…
Acute Myeloid Leukemia with FLT3 Mutation
Acute Myeloid Leukemia with FLT3 Mutation is a hematologic malignancy characterized by the uncontrolled proliferation of myeloid precursor cells. Among its genetic mutations, the FMS-like…
Biallelic rpe65 mutation-associated retinal dystrophy
Biallelic RPE65 mutation-associated retinal dystrophy is a rare but significant cause of inherited retinal diseases. This condition results from mutations in both copies of the…