USMLE Biochem Review

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Enzyme Defect Diagnosis Extra
Cystathione synthase deficiency, decreased affinity of cystathione synthase for pyridoxal phosphate, or homocysteine methyltransferase deficiency Autosomal recessive
Deficient Glucose-6-phosphatase Severe fasting hypoglycemia
Deficient Hexosaminidase A Progressive neurodegeneration
X-linked frame-shift mutation, deletion of dystrophin gene, acclerated muscle breakdown.
Adenosine deaminase deficiency
Blocked degradation of branched amino acids (Ile, Leu, Val) due to decreased alpha-ketoacid dehydrogenase Causes severe CNS defects, mental retardation, and death
Defect in fibrillin
Failure of addition of mannose-6-phosphate to lysosome proteins. Inherited lysosomal storage disorder. Results in coarse facial features, clouded corneas, restricted joint movement, and high plasma levels of lysosomal enzymes. Often fatal in childhood
Deficient glucocerebrosidaseHepatosplenomegaly. gaucher's cells
Deficient alpha-L-iduronidase Developmental delay, gargoylism, corneal clouding
Protein malnutrition resulting in skin lesions, edema, liver malfunction.
Deficient Beta-galactocerebrosidase Peripheral neuropathy
Deletion of VHL gene (tumor suppressor) on chromosome 3.Results in constitutive expression of HIF transcription factors and activation of angiogenic growth factors.
Defect in CFTR gene on chromosome 7 Autosomal recessive
Deficiency of tyrosinase and tyrosine transporters. Inability to synthesize melanin from tyrosine.
Abnormal Type I collagen
Energy malnutrition resulting in tissue and muscle wasting, loss of subcutaneous fat, and variable edema
Immotile cilia due to a dynein arm defect. Results in male and female infertility (sperm immotile), bronchiectasis, and recurrent sinusitis, associated with situs invertus
Defective Type III collagen Hyperextensible skin, tendency to bleed, hypermobile joints. Autosomal dominant or recessive.
Deficient Lysosomal alpha-1,4 glucosidase (acid maltase)Cardiomegaly
Deficient Arylsulfatase ACentral and peripheral demyelination with ataxia dementia
Hereditary defect of renal tubular amino acid transporter for cysteine, ornithine, arginine, and lysine in the PCT of the kidneys Autosomal recessive
Deficient sphingomyelinaseProgressive neurodegeneration, foam cells
X-linked defect affecting the methylation and expression of the FMR1 gene.CGG repeat
Enzyme Defect Diagnosis Extra
Deficiencies in apoB-100 and apoB-48Failure to thrive, steatorrhea, acanthocytosis, ataxia, night blindness
Congenital deficiency of homogentisic acid oxidase in the degradative pathway of tyrosine to fumarate. Autosomal recessive
Spectrin or ankyrin defect Autosomal dominant
Lipoprotein lipase deficiency or altered apolipoprotein C-II Pancreatitis, hepatosplenomegaly, and eruptive xanthomas
Deficient Iduronate sulfatase Aggressive behavior, no corneal clouding
Congenital microdeletion of long arm of chromosome 7 'Elfin' facies, mental retardation, hypercalcemia, extreme friendliness with strangers, cardiovascular problems
Defective neutral amino acid transporter on renal and intestinal epithelial cells. Leads to pellagra.
Deficient skeletal muscle glycogen phosphorylase Increased glycogen in muscle
Defect in fructokinase Autosomal recessive
Orotic acid phosphoribosyltransferase defectAutosomal recessive. Findings are megaloblastic anemia, failure to thrive.
Absent or decreased LDL receptors Accelerated atherosclerosis, tendon xanthomas, corneal arcus
Decreased phenylalanine hydroxylase or decreased tetrahydrobiopterin cofactor Autosomal recessive
Deficient debranching enzyme (alpha-1,6 glucosidase)
Microtubule polymerization defect resulting in decreased fusion of phagosomes and lysosomes. Results in recurrent pyogenic infections, partial albinism, and peripheral neuropathy
Congenital microdeletion of short arm of chromosome 5 Microcephaly, moderate to severe mental retardation, high-pitched crying/mewing, epicanthal folds, cardiac abnormalities
Deficient alpha-galactosidase A Peripheral neuropathy
Hereditary deficiency in aldolase B Autosomal recessive
X-linked mutated dystrophin gene (no frameshift). Less severe than Duchenne's. Onset in adolescence or early adulthood.
Absence of HGPRT which converts hypoxanthine to IMP and guanine to GMP. Results in excess uric acid production and de novo purine synthesis.Findings are retardation, self-mutilation, aggression, hyperuricemia, gout, choreoathetosis
Alpha-1 antitrypsin deficiency, resulting in excess elastase activity
Abnormal Type IV collagen X-linked recessive. Characterized by progressive hereditary nephritis and deafness. May be associated with ocular disturbances.
Defect of FGF receptor 3
Hepatic overproduction of VLDL Pancreatitis
22q11 deletion CATCH-22: Cleft palate, Abnormal facies, Thymic aplasia, Cardiac defects, Hypocalcemia

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