TY - JOUR
T1 - Alpha-mannosidosis - a review of genetic, clinical findings and options of treatment
AU - Borgwardt, Line
AU - Lund, Allan Meldgaard
AU - Dali, Christine I.
PY - 2014/9
Y1 - 2014/9
N2 - Alpha-mannosidosis (OMIM 248500) is a rare, autosomal recessive, multisystemic, progressive lysosomal storage disorder caused by a deficiency of alpha-mannosidase. It has been described in humans, cattle, domestic cats, mice and guinea pigs. In humans, alpha-mannosidosis results in progressive facial- and skeletal abnormalities, motor impairment, hearing impairment, intellectual disability, recurrent infections and immune deficiency. This review provides detailed information regarding the variability of manifestations and a description of current treatment and treatment under investigation for alpha-mannosidosis. The pathology, genetics and clinical pictures, including impairments in the activity of daily living are discussed.
AB - Alpha-mannosidosis (OMIM 248500) is a rare, autosomal recessive, multisystemic, progressive lysosomal storage disorder caused by a deficiency of alpha-mannosidase. It has been described in humans, cattle, domestic cats, mice and guinea pigs. In humans, alpha-mannosidosis results in progressive facial- and skeletal abnormalities, motor impairment, hearing impairment, intellectual disability, recurrent infections and immune deficiency. This review provides detailed information regarding the variability of manifestations and a description of current treatment and treatment under investigation for alpha-mannosidosis. The pathology, genetics and clinical pictures, including impairments in the activity of daily living are discussed.
KW - Enzyme Replacement Therapy
KW - Hearing Loss
KW - Hematopoietic Stem Cell Transplantation
KW - Humans
KW - alpha-Mannosidosis
M3 - Journal article
C2 - 25345101
SN - 1565-4753
VL - 12 Suppl 1
SP - 185
EP - 191
JO - Pediatric Endocrinology Reviews
JF - Pediatric Endocrinology Reviews
ER -