The abnormalities of lysosomal enzymes in mucopolysacc- haridoses.
1968
F Van Hoof, and
H G Hers
UI
MeSH Term
Description
Entries
D007223
Infant
A child between 1 and 23 months of age.
Infants
D007668
Kidney
Body organ that filters blood for the secretion of URINE and that regulates ion concentrations.
Kidneys
D007962
Leukocytes
White blood cells. These include granular leukocytes (BASOPHILS; EOSINOPHILS; and NEUTROPHILS) as well as non-granular leukocytes (LYMPHOCYTES and MONOCYTES).
A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances.
Livers
D008168
Lung
Either of the pair of organs occupying the cavity of the thorax that effect the aeration of the blood.
Lungs
D008247
Lysosomes
A class of morphologically heterogeneous cytoplasmic particles in animal and plant tissues characterized by their content of hydrolytic enzymes and the structure-linked latency of these enzymes. The intracellular functions of lysosomes depend on their lytic potential. The single unit membrane of the lysosome acts as a barrier between the enzymes enclosed in the lysosome and the external substrate. The activity of the enzymes contained in lysosomes is limited or nil unless the vesicle in which they are enclosed is ruptured or undergoes MEMBRANE FUSION. (From Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed).
Autolysosome,Autolysosomes,Lysosome
D008297
Male
Males
D009083
Mucopolysaccharidoses
Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency.
Mucopolysaccharidosis
D001921
Brain
The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.
Encephalon
D002648
Child
A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.