Betamannosidos
Ett medfött metabolismfel som präglas av en defekt i den lysosomala isoformen av BETA-MANNOSIDAS som resulterar i lysosomal ackumulering av mannosrika intermediära metaboliter innehållande 1,4-beta-bindningar. Den mänskliga sjukdom sker genom autosomalt recessivt arv och manifesteras i blankett [publikationstyp] av en mängd olika symtom som beror på typen av genmutation.
Förklaring på engelska
An inborn error of metabolism marked by a defect in the lysosomal isoform of BETA-MANNOSIDASE that results in lysosomal accumulation of mannose-rich intermediate metabolites containing 1,4-beta linkages. The human disease occurs through autosomal recessive inheritance and manifests in the form of a variety of symptoms that depend upon the type of gene mutation.
Synonym, svenska:
Synonym, engelska: beta Mannosidosis; beta-Mannosidoses; Lysosomal beta A Mannosidosis; beta-Mannosidase Deficiency; beta Mannosidase Deficiency; beta-Mannosidase Deficiencies; Lysosomal beta-Mannosidase Deficiency; Lysosomal beta Mannosidase Deficiency; Lysosomal beta-Mannosidase Deficiencies; Mannosidosis, beta A, Lysosomal
| Svensk term | Betamannosidos |
| Synonym på svenska | |
| Synonym på engelska | beta Mannosidosis; beta-Mannosidoses; Lysosomal beta A Mannosidosis; beta-Mannosidase Deficiency; beta Mannosidase Deficiency; beta-Mannosidase Deficiencies; Lysosomal beta-Mannosidase Deficiency; Lysosomal beta Mannosidase Deficiency; Lysosomal beta-Mannosidase Deficiencies; Mannosidosis, beta A, Lysosomal |
| Engelsk term | beta-Mannosidosis |
| MESH ID | D044905 |