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h2: Understanding ORFADIN (NITISINONE) h3: What is ORFADIN? ORFADIN is the brand name for the drug nitisinone. It is a medication used to treat a rare genetic disorder called hereditary tyrosinemia type 1 (HT-1). HT-1 is a condition in which the body is unable to break down the amino acid tyrosine, leading to a buildup … Read more
X-linked Myotubular Myopathy: Understanding the Rare Genetic Disorder 1. Introduction X-linked myotubular myopathy (XLMTM) is a rare genetic disorder that primarily affects skeletal muscles. It is characterized by severe muscle weakness and decreased muscle tone, leading to significant developmental delays and respiratory complications. XLMTM is caused by mutations in the MTM1 gene, which plays a…
X-Linked Agammaglobulinemia: Understanding the Rare Genetic Disorder Introduction X-linked Agammaglobulinemia (XLA) is a rare genetic disorder that affects the body’s ability to produce antibodies, leading to a weakened immune system. This condition primarily affects males and is characterized by recurrent bacterial infections, particularly in the respiratory tract. XLA is caused by mutations in the BTK…
X-Linked Hypophosphatemia: Understanding the Rare Genetic Disorder 1. Introduction X-Linked Hypophosphatemia (XLH) is a rare genetic disorder characterized by low levels of phosphate in the blood. Phosphate is essential for healthy bone and tooth development, and its deficiency can lead to skeletal abnormalities and other complications. XLH is an X-linked dominant disorder, meaning the gene…
X-linked Adrenoleukodystrophy: Understanding a Rare Genetic Disorder 1. Introduction X-linked Adrenoleukodystrophy (X-ALD) is a rare genetic disorder that affects the nervous system, adrenal glands, and the ability to process certain fats. It is an X-linked disorder, which means that it predominantly affects males, although females can carry the genetic mutation and pass it on to…
TANGO2-Related Metabolic Encephalopathy and Arrhythmias: Understanding the Disease 1. Introduction TANGO2-Related Metabolic Encephalopathy and Arrhythmias, often referred to as TANGO2 disease, is a rare genetic disorder characterized by a combination of neurological and cardiac symptoms. It is a metabolic disorder that affects energy production in the body, leading to a range of symptoms that can…
Niemann-Pick Disease: Understanding the Rare Genetic Disorder 1. Introduction Niemann-Pick Disease (NPD) refers to a group of rare, inherited metabolic disorders that are characterized by the abnormal accumulation of lipids (fats) within cells throughout the body. This accumulation leads to the impairment of cell function and, consequently, the progressive deterioration of multiple organs and systems….
Niemann-Pick Disease, Type C: Understanding the Rare Genetic Disorder 1. Introduction Niemann-Pick Disease, Type C (NPC) is a rare, progressive genetic disorder characterized by the accumulation of lipids, specifically cholesterol and glycosphingolipids, within the body’s cells. This accumulation leads to a range of neurological and visceral symptoms, affecting multiple organ systems. 2. Symptoms The symptoms…
Niemann-Pick Disease, Type A: Understanding the Rare Genetic Disorder 1. Introduction Niemann-Pick Disease, Type A (NPD-A) is a rare and fatal genetic disorder that falls under the broader category of lysosomal storage diseases. It is characterized by the body’s inability to metabolize lipids properly, leading to the accumulation of harmful levels of these substances in…
N-acetylglutamate Synthase Deficiency: Understanding the Rare Genetic Disorder Introduction N-acetylglutamate synthase (NAGS) deficiency is a rare genetic disorder that affects the body’s ability to produce urea, a waste product formed during the breakdown of protein. This condition is inherited in an autosomal recessive pattern, meaning that both parents must carry the defective gene for a…