For more information, see table .
See also Approach to the Patient With a Suspected Inherited Disorder of Metabolism Approach to the Patient With a Suspected Inherited Disorder of Metabolism Most inherited disorders of metabolism (inborn errors of metabolism) are rare, and therefore their diagnosis requires a high index of suspicion. Timely diagnosis leads to early treatment and... read more .
Krabbe disease is caused by an autosomal recessive Autosomal Recessive Genetic disorders determined by a single gene (Mendelian disorders) are easiest to analyze and the most well understood. If expression of a trait requires only one copy of a gene (one allele)... read more galactocerebroside beta-galactosidase deficiency. There are 4 forms: infantile, late infantile, juvenile, and adult.
It affects infants and is characterized by intellectual disability, paralysis, blindness, deafness, and pseudobulbar palsy, progressing to death.
Diagnosis and Treatment of Krabbe Disease
Enzyme analysis
Supportive care
Diagnosis of Krabbe disease is by DNA analysis and/or detecting enzyme deficiency in white blood cells or cultured skin fibroblasts. (See also testing for suspected inherited disorders of metabolism Initial testing Most inherited disorders of metabolism (inborn errors of metabolism) are rare, and therefore their diagnosis requires a high index of suspicion. Timely diagnosis leads to early treatment and... read more .)
Because bone marrow or stem cell transplantation prolongs life span and improves functional abilities of children who have the infantile or late infantile form, prenatal testing or neonatal screening Screening Tests for Newborns Screening recommendations for newborns vary by clinical context and regulatory requirements. In the United States, the Health Resources & Services Administration recommends screening for all... read more (currently available in a number of states in the United States) is sometimes done.
Treatment is supportive.
More Information
The following English-language resources may be useful. Please note that THE MANUAL is not responsible for the content of these resources.
Online Mendelian Inheritance in Man (OMIM) database: Complete gene, molecular, and chromosomal location information
KrabbeConnect: Krabbe Disease Newborn Screening: A resource showing which states in the United States currently screen for Krabbe disease in neonates