Type: Metabolic
Mucopolysaccharidosis type II
Iduronate-2-sulfatase deficiency with progressive multisystem storage; X-linked.
Mucopolysaccharidosis type IVA
Keratan sulfate storage with severe skeletal dysplasia and preserved intelligence.
Mucopolysaccharidosis type VI
Arylsulfatase B deficiency with skeletal dysplasia and organomegaly, intelligence usually preserved.
Tay-Sachs disease
Fatal neurodegenerative GM2 gangliosidosis from hexosaminidase A deficiency.
Tyrosinemia type 1
An inborn error of tyrosine metabolism; nitisinone with dietary restriction transformed the prognosis.
Urea cycle disorders
A group of inborn errors of nitrogen handling; treatment combines protein restriction with nitrogen-scavenging drugs and emergency protocols.
Type 2 Diabetes
Type 2 Diabetes What is Type 2 Diabetes? Type 2 diabetes is a chronic metabolic disorder characterized by high blood…
Type 2 Diabetes
Type 2 Diabetes What is Type 2 Diabetes? Type 2 diabetes is a chronic metabolic disorder characterized by insulin resistance…