Krabbe disease: management
Evidence-based neurology checklist on krabbe disease: management: Investigations Newborn screening Plasma GALC enzyme activity: this is reduced GALC mutational analysis: this is positive Psychosine level: this is elevated Nerve conduction studies (NCS): this may be abnormal Cerebrospinal fluid…
Investigations
- Newborn screening
- Plasma GALC enzyme activity: this is reduced
- GALC mutational analysis: this is positive
- Psychosine level: this is elevated
- Nerve conduction studies (NCS): this may be abnormal
- Cerebrospinal fluid (CSF) analysis: this is usually normal
Treatment
References
- Kwon JM, Matern D, Kurtzberg J, et al. J Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease. Orphanet J Rare Dis 2018; 13:30.
- Gelinas J, Liao P, Lehman A, Stockler S, Sirrs S. Krabbe disease: a potentially treatable white matter disorder. Neurology 2012; 79:e170-e172.
- Kapoor R, MCDonald WI, Crockard A, Moseley IF. Clinical onset and MRI features of Krabbe's disease in adolescence. JNNP 1992; 55:331-332.
