X-Linked Adrenoleukodystrophy
X-linked adrenoleukodystrophy (X-ALD) is a rare, inherited peroxisomal disorder that predominantly affects males. Characterized by the accumulation of very long-chain fatty acids (VLCFAs) in various…
Sitosterolemia
Sitosterolemia is a rare genetic disorder characterized by the abnormal accumulation of plant sterols (phytosterols) in the body, particularly sitosterol. This condition disrupts cholesterol metabolism,…
Neurofibromatosis Type 1 with Plexiform Neurofibromas
Neurofibromatosis type 1 with plexiform neurofibromas: Neurofibromatosis Type 1 (NF1) is a genetic disorder characterized by the development of multiple nerve sheath tumors, known as…
Multiple Endocrine Neoplasia (MEN)
Multiple Endocrine Neoplasia (MEN) is a rare genetic disorder characterized by the development of tumors in multiple endocrine glands. These tumors can be benign or…
Mucopolysaccharidosis Type VII (Sly Syndrome)
Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, is a rare lysosomal storage disorder caused by a deficiency of the β-glucuronidase (GUSB) enzyme.…
Mucopolysaccharidosis Type IV-A (Morquio A Syndrome)
Mucopolysaccharidosis type IV-A (MPS IV-A), also known as Morquio A syndrome, is a rare lysosomal storage disorder caused by a deficiency of the enzyme N-acetylgalactosamine-6-sulfatase…
Mucopolysaccharidosis Type II (MPS II)
Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a rare X-linked lysosomal storage disorder caused by a deficiency in the enzyme iduronate-2-sulfatase…
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…
Methemoglobinemia
Methemoglobinemia is a rare but potentially serious blood disorder where methemoglobin levels in the blood rise abnormally, impairing oxygen delivery to tissues. This condition can…
Maroteaux-Lamy Syndrome
Marginal zone lymphoma (MZL) is a slow-growing, rare form of B-cell non-Hodgkin lymphoma (NHL) that arises from the marginal zone of lymphoid tissue. It is…