List of articles in "Disease" category - Page 214

Infantile neuroaxonal dystrophy is a rare pervasive developmental disorder that primarily affects the nervous system. Individuals with infantile neuroaxonal dystrophy typically do not have any symptoms at birth but between […]

Hyperprolinemia also referred to as prolinemia or prolinuria is a condition which occurs when the amino acid proline is not broken down properly by the enzymes proline oxidase or pyrroline-5-carboxylate […]

Guanidinoacetate methyltransferase deficiency also called GAMT deficiency is an autosomal recessive metabolic disorder that primarily affects the nervous system and muscles. It is the first observed disorder of creatine metabolism.

Glucose-galactose malabsorption is a condition in which the cells lining the intestine cannot take in the sugars glucose and galactose which prevents proper digestion of these molecules and larger molecules […]

Portal hypertensive gastropathy refers to changes in the mucosa of the stomach in patients with portal hypertension; by far the most common cause of this is cirrhosis of the liver. […]

Hyperosmia is an increased olfactory acuity (heightened sense of smell) usually caused by a lower threshold for odor. This perceptual disorder arises when there is an abnormally increased signal at […]

Vitamin B12 deficiency or hypocobalaminemia typically features a low blood level of vitamin B12 however functional B12 deficiency can occur at any serum level; with or without anaemia and/or macrocytosis. […]

Chorea gravidarum is a rare type of chorea which presents with involuntary abnormal movement characterized by abrupt brief nonrhythmic nonrepetitive movement of any limb often associated with nonpatterned facial grimaces. […]

Synkinesis is the result from miswiring of nerves after trauma. This result is manifested through involuntary muscular movements accompanying voluntary movements. For example voluntary smiling will induce an involuntary contraction […]

Recurrent pyogenic cholangitis (a.k.a. cholangiohepatitis) is a condition that most commonly affects humans of East Asian origins. It is characterized by recurrent bouts of cholangitis in association with intrahepatic pigment […]