Archives: Conditions A-Z
Tay-Sachs disease
Fatal neurodegenerative GM2 gangliosidosis from hexosaminidase A deficiency.
Turner syndrome
A sex-chromosome disorder; growth hormone and oestrogen replacement, with cardiac surveillance, are central to care.
Tyrosinemia type 1
An inborn error of tyrosine metabolism; nitisinone with dietary restriction transformed the prognosis.
Tuberous sclerosis complex
A multisystem autosomal-dominant disorder of mTOR pathway regulation; mTOR inhibitors treat several manifestations.
Usher syndrome
Commonest cause of combined deaf-blindness, pairing sensorineural hearing loss with retinitis pigmentosa.
Urea cycle disorders
A group of inborn errors of nitrogen handling; treatment combines protein restriction with nitrogen-scavenging drugs and emergency protocols.
Whipple disease
Rare systemic bacterial infection with malabsorption, arthralgia and neurologic involvement.
Williams syndrome
Microdeletion disorder with cardiovascular disease, distinctive facies and a sociable personality.