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
genetic disorder
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