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Enzyme Defect Diagnosis Extra
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
Lipoprotein lipase deficiency or altered apolipoprotein C-II Pancreatitis, hepatosplenomegaly, and eruptive xanthomas
Deficient alpha-L-iduronidase Developmental delay, gargoylism, corneal clouding
Deficient debranching enzyme (alpha-1,6 glucosidase)
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
Orotic acid phosphoribosyltransferase defectAutosomal recessive. Findings are megaloblastic anemia, failure to thrive.
X-linked mutated dystrophin gene (no frameshift). Less severe than Duchenne's. Onset in adolescence or early adulthood.
Hereditary defect of renal tubular amino acid transporter for cysteine, ornithine, arginine, and lysine in the PCT of the kidneys Autosomal recessive
Defective Type III collagen Hyperextensible skin, tendency to bleed, hypermobile joints. Autosomal dominant or recessive.
Energy malnutrition resulting in tissue and muscle wasting, loss of subcutaneous fat, and variable edema
Microtubule polymerization defect resulting in decreased fusion of phagosomes and lysosomes. Results in recurrent pyogenic infections, partial albinism, and peripheral neuropathy
Hereditary deficiency in aldolase B Autosomal recessive
Deficient Iduronate sulfatase Aggressive behavior, no corneal clouding
Hepatic overproduction of VLDL Pancreatitis
Abnormal Type IV collagen X-linked recessive. Characterized by progressive hereditary nephritis and deafness. May be associated with ocular disturbances.
Deficient Hexosaminidase A Progressive neurodegeneration
Protein malnutrition resulting in skin lesions, edema, liver malfunction.
X-linked frame-shift mutation, deletion of dystrophin gene, acclerated muscle breakdown.
22q11 deletion CATCH-22: Cleft palate, Abnormal facies, Thymic aplasia, Cardiac defects, Hypocalcemia
Defect in fructokinase Autosomal recessive
Alpha-1 antitrypsin deficiency, resulting in excess elastase activity
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
Enzyme Defect Diagnosis Extra
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
Deficiency of tyrosinase and tyrosine transporters. Inability to synthesize melanin from tyrosine.
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 CFTR gene on chromosome 7 Autosomal recessive
Deficient sphingomyelinaseProgressive neurodegeneration, foam cells
Deficient Lysosomal alpha-1,4 glucosidase (acid maltase)Cardiomegaly
Deficient Arylsulfatase ACentral and peripheral demyelination with ataxia dementia
Defective neutral amino acid transporter on renal and intestinal epithelial cells. Leads to pellagra.
Deficient Beta-galactocerebrosidase Peripheral neuropathy
Deficiencies in apoB-100 and apoB-48Failure to thrive, steatorrhea, acanthocytosis, ataxia, night blindness
Deficient glucocerebrosidaseHepatosplenomegaly. gaucher's cells
Spectrin or ankyrin defect Autosomal dominant
Deletion of VHL gene (tumor suppressor) on chromosome 3.Results in constitutive expression of HIF transcription factors and activation of angiogenic growth factors.
Adenosine deaminase deficiency
Congenital deficiency of homogentisic acid oxidase in the degradative pathway of tyrosine to fumarate. Autosomal recessive
Deficient Glucose-6-phosphatase Severe fasting hypoglycemia
Defect of FGF receptor 3
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
Decreased phenylalanine hydroxylase or decreased tetrahydrobiopterin cofactor Autosomal recessive
Absent or decreased LDL receptors Accelerated atherosclerosis, tendon xanthomas, corneal arcus
Deficient skeletal muscle glycogen phosphorylase Increased glycogen in muscle

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