URINE METABOLIC DISORDERS (MPS, CHO DISORDERS) Flashcards
What substances are frequently found in urine in mucopolysaccharide (MPS) disorders?
Dermatan sulfate, Keratan sulfate, Heparan sulfate
What are the treatments for MPS disorders?
Bone marrow transplant, Gene replacement therapy
What MPS disorder involves corneal accumulation, skeletal abnormalities, and mental retardation?
Hurler syndrome, Gargoylism, MPS type I
What sex-linked recessive MPS disorder is rarely seen in females and includes abnormalities and mental retardation?
Hunter syndrome, MPS type II
What MPS disorder has mental retardation as the only abnormality?
Sanfilippo syndrome, MPS type III
What are the screening tests for MPS disorders?
Acid albumin test, CTAB test, MPS paper test
What is the confirmatory test for MPS disorders?
Molecular analysis
What enzyme is absent in Lesch-Nyhan syndrome?
Hypoxanthine guanine phosphoribosyltransferase
What is the appearance associated with Lesch-Nyhan syndrome?
Orange sand in diapers
What condition is characterized by being negative for glucose strips but positive for copper reduction tests?
Melituria
What is the inability to metabolize galactose to glucose called?
Galactosuria/Galactosemia
What enzymes are absent in galactosemia?
GALT, GALK, GALE
What substances are increased in galactosemia?
Galactitol, Galactonate, Galactose-1-phosphate
What infant symptoms are associated with galactosemia/galactosuria?
Failure to thrive, Liver disorders, Cataracts, Severe mental retardation
In what condition is glucosuria seen?
Diabetes mellitus
