Archives: Conditions A-Z
Wilson Disease
An inherited disorder of copper metabolism causing toxic copper accumulation in the liver, brain and other tissues; treatable when diagnosed…
Ehlers-Danlos Syndrome
A group of heritable connective-tissue disorders affecting collagen; management is largely supportive and type-specific.
Marfan Syndrome
A heritable connective-tissue disorder affecting the cardiovascular system, eyes and skeleton; aortic complications are the main cause of mortality.
Huntington Disease
A progressive autosomal-dominant neurodegenerative disorder caused by a CAG repeat expansion in the HTT gene; current therapies are symptomatic.
Cystic Fibrosis
A multisystem autosomal-recessive disorder of the CFTR chloride channel; CFTR modulators have transformed outcomes for eligible genotypes.
Phenylketonuria
An inherited amino-acid metabolism disorder; lifelong dietary phenylalanine restriction prevents neurological damage.
Fabry Disease
An X-linked lysosomal storage disorder from alpha-galactosidase A deficiency; enzyme replacement and oral chaperone therapy are available.
Gaucher Disease
The most common lysosomal storage disorder, caused by glucocerebrosidase deficiency; enzyme replacement and substrate reduction therapies are available.