What is Krabbe Disease?
Krabbe disease, also known as "Globoid Cell Leukodystrophy," belongs to the group of lysosomal storage disorders (LSDs), specifically the sphingolipidoses. It is a rare, autosomal recessive...
Fibrodysplasia ossificans progressive (FOP), previously known as myositis ossificans progressiva (MOP) and also referred to as Münchmeyer disease or Stoneman disease, is a rare...
What is Pearson Syndrome?
Pearson Syndrome is a rare, fatal mitochondrial disorder characterized by multisystem involvement, commonly affecting the bone marrow and pancreas. With an...
Malignant hyperthermia is a sudden, severe onset of muscle rigidity, hypermetabolism, respiratory failure, and cardiovascular compromise in a patient in response to the anesthetic...
Hunter syndrome (also known as mucopolysaccharidosis II or MPS II) is a rare X-linked recessive lysosomal storage disorder with a significantly higher prevalence in...
Batten disease is a rare disease affecting the nervous system. Weak eyesight, seizures, slowed growth rate, delays in cognitive learning, motor skills disability, and...
MODY Diabetes
Maturity-onset diabetes of the young (MODY) is a non-insulin-dependent type of diabetes mellitus that doctors usually discover in young adults. MODY is mostly...