hydroxymethylglutaricaciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency; HMG-CoA lyase deficiency

Genetics

]

• autosomal recessive
• associated with defects in HMGCL gene

Clinical manifestations

• hypoglycemia
• coma

Database

• OMIM: https://mirror.omim.org/entry/246450