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

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Created May 1, 2012ReportNominate
Tags:diagnosis, enzyme, review, usmle

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