Mevalonate kinase deficiency also called mevalonic aciduria is an autosomal recessive metabolic disorder that disrupts the biosynthesis of cholesterol and isoprenoids.
List of articles in "Disease" category - Page 263
Zinc toxicity
Even though zinc is an essential requirement for a healthy body excess zinc can be harmful and cause zinc toxicity. Such toxicity levels have been seen to occur at ingestion […]
Familial isolated vitamin E deficiency
Familial Isolated Vitamin E Deficiency is a rare autosomal recessive neurodegenerative disease. Symptoms are similar to those of Friedreich ataxia.
Separated shoulder
A separated shoulder (also known as acromioclavicular separation AC joint separation AC separation) is a common injury to the acromioclavicular joint. This is not to be confused with shoulder dislocation […]
Aniseikonia
Aniseikonia is an ocular condition where there is a significant difference in the perceived size of images. It can occur as an overall difference between the two eyes or as […]
Takotsubo cardiomyopathy
Takotsubo cardiomyopathy also known as transient apical ballooning syndrome apical ballooning cardiomyopathy stress-induced cardiomyopathy Gebrochenes-Herz-Syndrom and stress cardiomyopathy is a type of non-ischaemic cardiomyopathy in which there is a sudden […]
Drug-induced lupus erythematosus
Drug-induced lupus erythematosus (DIL or DILE) is an autoimmune disorder (similar to systemic lupus erythematosus [SLE]) caused by chronic use of certain drugs. These drugs cause an autoimmune response (the […]
Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is a rhythm disorder of the ventricles of the heart that occurs in genetically predisposed individuals. Synonyms: Familial Polymorphic Ventricular Tachycardia (FPVT) Catecholamine-Induced Polymorphic Ventricular […]
Marcus Gunn phenomenon
Marcus Gunn phenomenon (a.k.a. Marcus Gunn Jaw-Winking or Trigemino-oculomotor Synkineses) is an autosomal-dominant condition with incomplete penetrance in which nursing infants will have rhythmic upward jerking of their upper eyelid. […]
Bladder sphincter dyssynergia
Bladder sphincter dyssynergia (also known as detrusor sphincter dysynergia (DSD) (the ICS standard terminology agreed 1998) and neurogenic detrusor overactivity (NDO)) is a consequence of a neurological pathology such as […]