Metabolic Disorders Flashcards
Phenylketonuria (PKU)
Unable to produce phenylalanine hydroxylase
Guthrie Test uses B. subtilis
Tyrosyluria
Type 1 - Lack of FAH (fumerylacetoacetate hydrolase) causing liver disease
Type 2 - Lack of aminotransferase causing lesions on hands, feet, and eyes
Type 3 - Lack of B-hydroxyphenylpyruvic acid dioxygenase causing seizures and intellectual disability
Melanuria
Over producing melanin results in malignant melanoma
Alkaptonuria
Failure to produce homogentistic acid oxidase
Seen as brown or black stained diapers
Arthritis and possible liver and cardiac disorders
Maple Syrup Urine Disease
Failure to produce oxidative decarboxylation of keto acids
Maple Order can be detected
Early treatment prevents severe intellectual disability and death
Isovaleric acidemia
Urine specimens possess odor of sweaty feet
Defect in the isovaleryl coenzyme A
Propionic and Methylmalonic acidemia
Errors in metabolic pathway converting isoleucine, valine, threonin, and methionine
Indicanuria
Hartnup Disease where increased amounts of tryptophan are converted to indole.
“Blue” diaper
5-Hydroxyindoleacetic Acid
Carcinoid tumors involving argenaffin
Cystinuria
Elevated amino acid cystine in urine
Cystinosis
Defect in lysosomal membranes prevents release of cystine into cellular cytoplasm.
Cystine crystals deposit in other areas of the body
Homocystinuria
Increased homocysteine
Results in failure to thrive, cataracts, intellectual disability, thromboembolic problems, stroke, and death
Porphyrias
Disorders in the production of heme.
Lead poisoning, excessive alcohol intake, iron deficiency, chronic liver disease, renal disease
Mucopolysaccharides/Glycosaminoglycans (GAGs)
Prevent complete breakdown of polysaccharide portion of the compounds. Diseases are Hurler, Hunter, and Sanfilippo
Purine Disorders
Lesh-Nyhan
Orange sand in diapers
Failure to produce enzyme hypoxanthine quanine phosphoribosyltransferase
