Autism spectrum disorder (ASD) is a complex neurodevelopmental condition that affects a patient’s behavior, communication, and social interaction. It is often diagnosed in early childhood, with symptoms varying in severity. ASD is characterized by impaired social interaction and communication skills,…
The neurological exam is a vital tool for assessing the health of the nervous system. It involves checking different parts of the body and testing various functions. The exam is usually done by a neurologist or other healthcare providers who…
Molybdenum cofactor deficiency is a rare genetic condition that causes the dysfunction of the molybdenum cofactor, which is essential for the function of certain enzymes in the body. This deficiency can lead to a range of symptoms and diseases, such…
PNPLA2 gene The PNPLA2 gene is a scientific term used to describe the Patatin-like phospholipase domain-containing protein 2 gene. This gene is responsible for encoding an enzyme called adipose triglyceride lipase (ATGL) which plays a crucial role in lipid metabolism.…
Phenylephrine Phenylephrine is used to relieve nasal discomfort caused by colds, allergies, and hay fever. It is also used to relieve sinus congestion and pressure. Phenylephrine will relieve symptoms but will not treat the cause of the symptoms or speed…
The CASQ2 gene, also known as the calsequestrin-2 gene, is a scientific genetic name given to a gene that has been implicated in several cardiac diseases. It plays a crucial role in the storage and release of calcium ions within…
The UROD gene, also known as Uroporphyrinogen decarboxylase, is a scientific topic that has generated significant interest in the medical community. The UROD gene plays a crucial role in the production of heme, a vital component of hemoglobin and other…
The PABPN1 gene is involved in the development of oculopharyngeal muscular dystrophy (OPMD), a rare genetic disease. This gene provides instructions for making the polyadenylate-binding protein nuclear 1 (PABPN1) protein, which plays a crucial role in mRNA processing and stability.…
Fucosidosis is a rare genetic condition associated with a deficiency in the fucosidase enzyme. It is one of the types of lysosomal storage diseases, a group of disorders characterized by the accumulation of substances in the lysosomes. Fucosidosis is inherited…
The WFS1 gene, also called wolframin, is a gene that is responsible for causing the Wolfram syndrome, a rare genetic disorder that affects multiple systems in the body. Wolfram syndrome is characterized by the progressive loss of function in the…