Multiple carboxylase deficiency is a form of metabolic disorder involving failures of carboxylation enzymes.The deficiency can be in biotinidase or holocarboxylase synthetase.These conditions respond to biotin.Forms include: Holocarboxylase synthetase deficiency […]
List of articles in "Disease" category - Page 176
Tyrosinemia type III
Type III tyrosinemia is a rare disorder caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase (EC 1.13.11.27) encoded by the gene HPD. This enzyme is abundant in the liver […]
Type I tyrosinemia
Type 1 Tyrosinemia also known as hepatorenal tyrosinemia is the most severe form of tyrosinemia. It is caused by a deficiency of the enzyme fumarylacetoacetate hydrolase.
Tracheobronchial injury
Tracheobronchial injury (TBI) is damage to the tracheobronchial tree (the airway structure involving the trachea and bronchi). It can result from blunt or penetrating trauma to the neck or chest […]
Acute myeloid dendritic cell leukemia
Acute myeloid dendritic cell leukemia is an exceedingly rare form of leukemia. This form of leukemia represents only about 0.8% of all cases of acute myeloid leukemia. Dendritic cells function […]
Sternal fracture
A sternal fracture is a fracture of the sternum (the breastbone) located in the center of the chest. The injury which occurs in 5–8% of people who experience significant blunt […]
Focal and diffuse brain injury
Focal and diffuse brain injury are ways to classify brain injury: focal injury occurs in a specific location while diffuse injury occurs over a more widespread area. It is common […]
Tongue disease
Tongue diseases can be congenital or acquired and are multiple in number. Glossitis is a general term for tongue inflammation which can be caused by various etiologies e.g. infection. Considered […]
Acantholysis
Acantholysis is the loss of intercellular connections such as desmosomes resulting in loss of cohesion between keratinocytes seen in diseases such as pemphigus vulgaris. It is absent in bullous pemphigoid […]
Pigmentation disorder
Pigmentation disorders are disturbances of human skin color either loss or reduction which may be related to loss of melanocytes or the inability of melanocytes to produce melanin or transport […]