Canavan disease
Autoszomális recesszív
Deficiency of the enzyme aspartoacylase causes an enlarged head, poor head control, low muscle tone and developmental delay from the first months of life; milder forms also exist.
Mit változtat a diagnózis
Diagnosis allows supportive care, carrier testing for relatives and reproductive planning.
Vizsgált gének
Más néven
ACY2 deficiency; aminoacylase 2 deficiency; aspartoacylase deficiency; Canavan-VAN Bogaert-Bertrand disease; spongy degeneration of central nervous system; spongy degeneration of the brain; spongy degeneration of the central nervous system; Von Bogaert-Bertrand disease
2 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- mild Canavan disease
- severe Canavan disease
