Lysosomal storage disease resulting from nearly
complete deficiency of alpha-l-fucosidase enzyme activity
characterized by accumulation of lipids (glycosphingolipids) in the central nervous system (CNS) and
Alpha-L-Fucosidase Deficiency; Mucopolysaccharidosis F;
Mucopolysaccharidosis Storage Disease F; FUCA Deficiency; Glycoproteinoses.
Many researchers believe there are two types of
fucosidosis (types I and II), which are determined by the severity of
symptoms. Others theorize there are three types, with the age at onset and
disease severity the determining factors.
Fucosidosis type I is the most severe form of the disease. The age at onset is the infancy
period, and it may become apparent as early as age 6 months. Clinical
symptoms include progressive deterioration of the brain and spinal cord,
mental retardation, loss of previously acquired intellectual skills, and
growth retardation leading to short stature. Dysostosis multiplex, coarse
facial features, cardiomegaly, hepatosplenomegaly, and seizures complete the
Fucosidosis type II is characterized by age at onset within the first few years of life and
clinical symptoms that progress more slowly than in type I. Other symptoms
may be similar to type I but are milder. The most noticeable feature
distinguishing the two types is the appearance of angiokeratomas on the skin
of individuals with type II.
Fewer than 100 cases have been reported. Equally
distributed in males and females. Pan-ethnic, but frequency is increased in
populations of Italian and Spanish descent.
Autosomal recessive. The gene (alpha-l-fucosidase) is mapped to chromosome 1p34 with a homologous site on
chromosome 2. Seventeen mutation types have been reported.
Deficiency of alpha-l-fucosidase (a
lysosomal enzyme that catalyzes removal of fucose residues from
glycosphingolipids) results in accumulation and excretion of
oligosaccharides and glycoproteins (mainly H antigen glycolipid).
Based on history and physical findings. Increased sweat
sodium chloride (infantile form) and urinary fucose-rich oligosaccharides,
sphingolipids, and glycopeptides (about 22 glycopeptides) detected by thin-layer chromatography (no mucopolysaccharides). Enzyme assay of alpha-l-fucosidase in white blood cells or cultured fibroblasts. Prenatal
diagnosis available (deficiency of alpha-l-fucosidase activity in
cultured chorionic villi or amniocytes).
More severe cases (type I or infantile form) are
affected in the first year of life with mental and growth retardation,
dysostosis multiplex, and coarse faces. Hepatosplenomegaly, cardiomegaly,
seizures, and infections are variable. Death occurs around age 5 years. The
milder form (type II or juvenile form) has similar but less severe features,
longer survival (early adulthood), and is distinguished from the infantile
form with the presence of angiokeratoma.
The potential for difficult direct
laryngoscopy and tracheal intubation must be reviewed in view of the
unstable cervical spine. Proper preoperative evaluation of the cervical
spine motion must be achieved. Gingival hyperplasia may be present and
occasionally can be significant enough to affect the airway management.
Neuraxial regional blockade may be difficult because of ...