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What (who) is lysosomal storage disease - definition
Lysosomal storage disease
INHERITED METABOLIC DISORDER THAT INVOLVE AN ABNORMAL ACCUMULATION OF SUBSTANCES INSIDE THE LYSOSOME RESULTING FROM DEFECTS IN LYSOSOMAL FUNCTION
Lysosomal storage disorder; Lysosomal storage diseases; Lysosomal storage diseases, nervous system; Lysosomal disorders; Lysosomal storage disorders; Lysosomal Storage Disease; Lysosomal disorder; Lysosomal disease
Lysosomal storage diseases (LSDs; ) are a group of over 70 rare inherited metabolic disorders that result from defects in lysosomal function. Lysosomes are sacs of enzymes within cells that digest large molecules and pass the fragments on to other parts of the cell for recycling.
Glycogen storage disease type I
RARE DISEASE
Von Gierke's Disease; Von Gierke disease; Glucose-6-phosphatase deficiency; Von Gierke's disease; GSD type I; Glycogen storage disease type 1B; Glycogen storage disease type i; Gierke's disease; Von Gierke Disease; GSD I; Hepato-renal glycogenesis; Glerke's disease; Glycogen storage disease type 1b; Glycogen storage disease type 1C; Type 1 glycogen storage disease; Von gierke; Von gierke disease; Von Gierke's syndrome
Glycogen storage disease type I (GSD I) is an inherited disease that results in the liver being unable to properly break down stored glycogen. This impairment disrupts the liver's ability to break down stored glycogen that is necessary to maintain adequate blood sugar levels.
Lysosomal acid lipase deficiency
AUTOSOMAL RECESSIVE INBORN ERROR OF METABOLISM THAT RESULTS IN THE BODY NOT PRODUCING ENOUGH ACTIVE LYSOSOMAL ACID LIPASE (LAL) ENZYME
Wolman's disease; Wolman’s disease; Wolman disease; Cholesteryl ester storage disease; Cholesterol ester storage disease; Wolmans disease; Wolman's; Wolman's syndrome; Wolman syndrome; Lysosomal Acid Lipase (LAL) Deficiency; Lysosomal Acid Lipase deficiency; Wolman Disease; Lysosomal Acid Lipase Deficiency; LAL deficiency; LAL-D
Lysosomal acid lipase deficiency (LAL deficiency or LAL-D) is an autosomal recessive inborn error of metabolism that results in the body not producing enough active lysosomal acid lipase (LAL) enzyme. This enzyme plays an important role in breaking down fatty material (cholesteryl esters and triglycerides) in the body.
