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| 8504126028 | adenosine deaminase deficiency | cause of SCID (autosomal recessive) excessive ATP/dATP feedback inhibition of ribonucleotide reductase - prevents DNA synthesis and lowers lymphocyte count | 0 | |
| 8504127466 | Lesch-Nyhan syndrome | defective purine salvage (absence of HGPRT) hyperuricemia, gout, aggression, self-mutilation, retardation, dystonia Tx: allopurinol, febuxostat | 1 | |
| 8504166162 | xeroderma pigmentosum | prevents repair of pyrimidine dimers (UV light) - no nucleotide excision repair | 2 | |
| 8504170785 | HNPCC | hereditary nonpolyposis colorectal cancer defective mismatch repair | 3 | |
| 8504171074 | problems with nonhomologous end joining | ataxia telangiectasia, Fanconi anemia | 4 | |
| 8504174636 | mRNA start codon | AUG | 5 | |
| 8504174638 | mRNA stop codons | UGA, UAA, UAG | 6 | |
| 8504178266 | RNA polymerase I | makes rRNA - most numerous RNA | 7 | |
| 8504178549 | RNA polymerase II | makes mRNA - largest RNA inhibited by Amanita phalloides (death cap mushroom) | 8 | |
| 8504179440 | RNA polymerase III | makes tRNA - smallest RNA | 9 | |
| 8504208416 | anti-U1 RNP antibodies | prevents spliceosomal snRNPs anti-Smith antibodies are specific for SLE associated with mixed connective tissue disease (MCTD) | 10 | |
| 8504227692 | ribosomal units for eukaryotes | 40S + 60S = 80S | 11 | |
| 8504227856 | ribosomal units for prokaryotes | 30S + 50S = 70S | 12 | |
| 8504417835 | inhibits prokaryotic RNA polymerase | rifampin | 13 | |
| 8504417837 | inhibits prokaryotic topoisomerase | fluoroquinolones | 14 | |
| 8504418006 | inhibits prokaryotic dihydrofolate reductase | trimethoprim | 15 | |
| 8504442432 | inhibits eukaryotic topoisomerase | etoposide | 16 | |
| 8504462558 | Bloom syndrome | mutation of helicase - no DNA replication/repair | 17 | |
| 8504464132 | ataxia telangiectasia | defective repair of dsDNA breaks | 18 | |
| 8504464449 | BRCA1/2 mutations | defective repair of dsDNA breaks | 19 | |
| 8504473424 | targets of macrolides | VACUM TH BR Vibrio cholerae Acne Chlamydia Ureaplasma urealyticum Mycoplasma pneumoniae Tularemia H. pylori Borrelia burgdorferi Rickettsia ricketsii | 20 | |
| 8504519115 | rifampin | inhibits RNA polymerase red secretions revs up cytochrome P-450 | 21 | |
| 8504531082 | dantrolene | prevents release of calcium from sarcoplasmic reticulum of skeletal muscle | 22 | |
| 8505300116 | Li-Fraumeni syndrome | mutations in p53 tumor suppressor gene - unrestrained cell division multiple malignancies at young age SBLA cancer syndrome = sarcoma, breast, leukemia, adrenal gland | 23 | |
| 8505301135 | M phase | mitosis (prophase, prometaphase, metaphase, anaphase, telophase) cytokinesis | 24 | |
| 8505328377 | inclusion cell disease (mucolipidosis) | inherited lysosomal storage disorder defect in N-acetylglucosaminyl-1-phosphotransferase: Golgi can't phosphorylate mannose residues on glycoproteins coarse facial features, clouded corneas, restricted joint movement, high plasma levels of lysosomal enzymes fatal in childhood | 25 | |
| 8505335559 | Nissl bodies | RER in neurons make peptide neurotransmitters for secretion | 26 | |
| 8505336414 | signal recognition particle (SRP) | cytosolic ribonucleoprotein that traffics proteins from ribosome to RER | 27 | |
| 8505337992 | vesicular trafficking proteins | COPI (retrograde, golgi to golgi) COPII (anterograde, ER to golgi) clathrin (golgi to lysosomes, plasma membrane to endosomes) | 28 | |
| 8505346310 | peroxisome | catabolizes very-long-chain fatty acids, branched-chain fatty acids, and amino acids | 29 | |
| 8505409938 | drugs that act on microtubules | Microtubules Get Constructed Very Poorly mebendazole (antihelminthic) griseofulvin (antifungal) colchicine (antigout) vincristine/vinblastine (anticancer) paclitaxel (anticancer) | 30 | |
| 8505411828 | microfilaments | muscle contraction, cytokinesis actin | 31 | |
| 8505412210 | intermediate filaments | maintain cell structure vimentin, desmin, cytokeratin, lamins, glial fibrillary acid proteins (GFAP), neurofilaments | 32 | |
| 8505413001 | microtubules | movement, cell division cilia, flagella, mitotic spindle, axonal trafficking, centrioles | 33 | |
| 8505414529 | dynein | motor protein - retrograde to microtubule | 34 | |
| 8505414817 | kinesin | motor protein - anterograde to microtubule | 35 | |
| 8505415791 | Kartagener syndrome (primary ciliary dyskinesia) | AR dynein arm defect = immotile cilia results in infertility because of immotile sperm and fallopian tube cilia increased risk of ectopic pregnancy bronchiectasis, recurrent sinusitis, situs inversus | 36 | |
| 8505446414 | type I collagen | most common type (90%) bone, skin, tendon dentin, fascia, cornea, late wound repair low in osteogenesis imperfecta type 1 | 37 | |
| 8505448103 | type II collagen | cartilage (hyaline), vitreous body, nucleus pulposus | 38 | |
| 8505448529 | type III collagen | reticulin skin, blood vessels, uterus, fetal tissue, granulation tissue low in Ehlers-Danlos syndrome | 39 | |
| 8505453345 | type IV collagen | basement membrane, basal lamina, lens low in Alport syndrome targeted by autoantibodies in Goodpasture syndrome | 40 | |
| 8505458560 | collagen synthesis | synthesis > hydroxylation > glycosylation > exocytosis > proteolytic processing > cross-linking | 41 | |
| 8505464383 | osteogenesis imperfecta | brittle bone disease AD low type I collagen multiple fractures with minimal trauma blue sclerae = translucency of connective tissue over choroidal veins hearing loss (abnormal ossicles) dental imperfections due to lack of dentin | 42 | |
| 8505467084 | Ehlers-Danlos syndrome | AD or AR 1. hypermobility type - most common 2. classical type - joint/skin, type V collagen 3. vascular type - organ rupture, type III collagen hyperextensible skin tendency to bleed (easy bruising) hypermobile joints joint dislocation, berry and aortic aneurysms, organ rupture | 43 | |
| 8505474553 | Menkes disease | impaired copper absorption defective Menkes protein (ATP7A) low lysyl oxidase activity brittle "kinky" hair growth retardation hypotonia | 44 | |
| 8505492942 | Marfan syndrome | defect in fibrillin (glycoprotein that forms a sheath around elastin) - FBN1 gene on chr. 15 skeleton, heart, eyes tall with long extremities pectus excavatum hypermobile joints arachnodactyly cystic medial necrosis of aorta aortic incompetence dissecting aortic aneurysms floppy mitral valve upward/temporal subluxation of lenses | 45 | |
| 8505493705 | alpha-1-antitrypsin deficiency | excess elastase activity causes emphysema | 46 | |
| 8505506364 | southern blot | DNA | 47 | |
| 8505506365 | northern blot | RNA | 48 | |
| 8505506366 | western blot | protein | 49 | |
| 8505508895 | southwestern blot | DNA-binding proteins | 50 | |
| 8505584250 | McCune-Albright syndrome | mutation in G-protein signaling unilateral cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine problems only survivable if mutations in some cells (mosaicism) | 51 | |
| 8505613721 | Prader-Willi syndrome | paternal gene deleted on chr. 15 hyperphagia, obesity, intellectual disability, hypogonadism, hypotonia | 52 | |
| 8505616705 | Angelman syndrome | maternal gene deleted on chr. 15 inappropriate laughter (happy puppet), seizures, ataxia, severe intellectual disability | 53 | |
| 8505622013 | hypophosphatemic rickets (vitamin D-resistant rickets) | phosphate wasting at proximal tubule | 54 | |
| 8505624649 | mitochondrial myopathies | myopathy, lactic acidosis, CNS disease failure in oxidative phosphorylation muscle biopsy: ragged red fibers | 55 | |
| 8505628240 | autosomal dominant polycystic kidney disease (ADPKD) | AD bilateral enlargement of kidneys mutation in PKD1 on chr. 16 mutation in PKD2 on chr. 4 | 56 | |
| 8505630578 | familial adenomatous polyposis (FAP) | AD onset after puberty progresses to colon cancer if not resected mutations on chr. 5q | 57 | |
| 8505631868 | familial hypercholesterolemia | AD high LDL because of defective LDL receptor severe atherosclerosis, corneal arcus, tendon xanthomas (Achilles tendon) | 58 | |
| 8505638625 | hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) | AD blood vessel disorder branching skin lesions (telangiectasias), recurrent epistaxis, skin discolorations, AVMs, GI bleeding, hematuria | 59 | |
| 8505644050 | hereditary spherocytosis | AD spectrin/ankyrin defect hemolytic anemia, high MCHC, high RDW Tx: splenectomy | 60 | |
| 8505646805 | Huntington disease | AD depression, progressive dementia, choreiform movements, caudate atrophy high DA, low GABA, low ACh in brain gene on chr. 4 - trinucleotide repeat (CAG) anticipation = more repeats - younger age of onset | 61 | |
| 8505718980 | multiple endocrine neoplasias (MEN) | AD several distinct syndromes (1, 2A, 2B) pancreas, parathyroid, pituitary, thyroid, adrenal medulla MEN1: MEN1 gene MEN2A/MEN2B: RET gene | 62 | |
| 8505725738 | neurofibromatosis type 1 (von Recklinghausen disease) | AD - 100% penetrance, variable expression NF1 gene on chr. 17 neurocutaneous disorder cafe-au-lait spots cutaneous neurofibromas optic gliomas pheochromocytomas Lisch nodules (pigmented iris hamartomas) | 63 | |
| 8505734829 | neurofibromatosis type 2 | AD NF2 gene on chromosome 22 bilateral acoustic schwannomas juvenile cataracts meningiomas ependymomas | 64 | |
| 8505737635 | tuberous sclerosis | AD - incomplete penetrance, variable expression neurocutaneous disorder numerous benign hamartomas | 65 | |
| 8505757045 | von Hippel-Lindau disease | deletion of VHL gene (tumor suppressor) on chr. 3 numerous tumors (benign and malignant) | 66 | |
| 8505775239 | cystic fibrosis | AR defect in CFTR gene on chr. 7 deletion of Phe508 most common lethal genetic disease in Caucasians CFTR: ATP-gated chloride channel - secretes chloride in lungs and GI tract, reabsorbs chloride in sweat glands thick mucus in lungs and GI tract increased sodium reabsorption causes more negative transepithelial potential difference Dx: sweat chloride > 60 mEq/L, immunoreactive trypsinogen recurrent pulmonary infections (Pseudomonas) chronic bronchitis/bronchiectasis reticulonodular pattern on CXR pancreatic insufficiency malabsorption = steatorrhea nasal polyps meconium ileus in newborns male infertility (absent vas deferens) female subfertility (amenorrhea, thick cervical mucus) fat-soluble vitamin deficiency - ADEK Tx: NAC to loosen mucus plugs, dornase alfa to clear leukocytic debris | 67 | |
| 8505828167 | X-linked recessive disorders | Be Wise, Fool's GOLD Heeds HOpe. Bruton agammaglobulinemia Wiskott-Aldrich syndrome Fabry disease G6PD deficiency Ocular albinism Lesch-Nyhan syndrome Duchenne/Becker muscular dystrophy Hunter syndrome Hemophilia A/B Ornithine transcarbamylase deficiency | 68 | |
| 8505833649 | autosomal recessive diseases | albinism autosomal recessive polycystic kidney disease (ARPKD) cystic fibrosis glycogen storage diseases hemochromatosis Kartagener syndrome mucopolysaccharidoses (exception: Hunter syndrome) phenylketonuria sickle cell anemia sphingolipidoses (exception: Fabry disease) thalassemias Wilson disease | 69 | |
| 8506218392 | myotonic muscular dystrophy (type 1) | AD CTG trinucleotide repeat in DMPK gene myotonia, muscle wasting, cataracts, testicular atrophy, frontal balding, arrhythmia My Tonia, My Testicles, My Toupee, My Ticker. | 70 | |
| 8506223944 | fragile X syndrome | FMR1 gene - trinucleotide repeat (CGG) post-pubertal macroorchidism, long face with large jaw, large everted ears, autism, mitral valve prolapse | 71 | |
| 8506230740 | trinucleotide repeat expansion diseases | Try hunting for my fried eggs. Huntington disease (CAG) myotonic dystrophy (CTG) Friedreich ataxia (GAA) fragile X syndrome (CGG) Ex-Girlfriend's First Aid Helped Ace My Test. | 72 | |
| 8506377669 | DiGeorge syndrome | chr. 22q11 | 73 | |
| 8506423172 | cri-du-chat syndrome | microdeletion of short arm of chr. 5 microcephaly, moderate/severe intellectual disability, high-pitched crying (meowing), epicanthal folds, VSD | 74 | |
| 8506426672 | Williams syndrome | microdeletion of long arm of chr. 7 (elastin gene) elfin facies intellectual disability hypercalcemia (sensitivity to vitamin D) well-developed verbal skills extreme friendliness with strangers cardiovascular problems | 75 | |
| 8506434222 | 22q11 deletion syndromes (CATCH-22) | cleft palate abnormal facies T-cell deficiency (thymic aplasia) cardiac defects hypocalcemia (parathyroid aplasia) DiGeorge syndrome: thymic, parathyroid, cardiac velocardiofacial syndrome: palate, facial, cardiac | 76 | |
| 8506464919 | vitamin A (retinol) | visual pigments (retinal) differentiates epithelial cells into pancreatic cells and mucus-secreting cells prevents squamous metaplasia used for measles and AML (subtype M3) deficiency: night blindness, dry scaly skin, corneal degeneration (keratomalacia), spots on conjunctiva, immunosuppression | 77 | |
| 8506478667 | vitamin B1 (thiamine) | thiamine pyrophosphate (TPP) cofactor for dehydrogenase enzyme reactions: - pyruvate dehydrogenase - alpha-ketoglutarate dehydrogenase - transketolase - branched-chain ketoacid dehydrogenase deficiency: Wernicke-Korsakoff syndrome: ophthalmoplegia, ataxia, confusion, confabulation, personality change, memory loss (permanent) - damage to medial dorsal nucleus of thalamus and mammillary bodies dry beriberi: polyneuritis, symmetrical muscle wasting wet beriberi: high-output cardiac failure (dilated cardiomyopathy), edema | 78 | |
| 8506496568 | vitamin B2 (riboflavin) | found in FAD and FMN - cofactors in redox reactions (succinate dehydrogenase reaction in TCA cycle) deficiency: cheilosis, corneal vascularization | 79 | |
| 8506508619 | vitamin B3 (niacin) | constituent of NAD+/NADP+ derived from tryptophan requires vitamins B2 & B6 for synthesis lowers VLDL, raises HDL deficiency: glossitis pellagra = diarrhea, dementia, dermatitis caused by: Hartnup disease, malignant carcinoid syndrome, isoniazid dermatitis - "broad collar" rash in C3 and C4 dermatomes excess: facial flushing | 80 | |
| 8506522459 | vitamin B5 (pantothenic acid) | part of coenzyme A (CoA) and fatty acid synthase | 81 | |
| 8506529598 | vitamin B6 (pyridoxine) | converted to pyridoxal phosphate (PLP) cofactor used in transamination (ALT/AST) deficiency: convulsions, irritability, peripheral neuropathy, sideroblastic anemia | 82 | |
| 8506555064 | vitamin B7 (biotin) | cofactor for carboxylation enzymes: - pyruvate carboxylase - acetyl-CoA carboxylase - propionyl-CoA carboxylase deficiency caused by excessive egg whites | 83 | |
| 8506568496 | vitamin B9 (folate) | converted to tetrahydrofolate (THF) leafy green vegetables absorbed in jejunum stored in liver deficiency: macrocytic megaloblastic anemia hypersegmented PMNs glossitis increased homocysteine normal methylmalonic acid deficiency caused by: phenytoin sulfonamides methotrexate most common deficiency in U.S. (alcoholism and pregnancy) | 84 | |
| 8506594155 | vitamin B12 (cobalamin) | cofactor for homocysteine methyltransferase deficiency: degeneration of: dorsal columns, lateral corticospinal tracts, spinocerebellar tracts irreversible nerve damage high homocysteine and MMA | 85 | |
| 8506617930 | vitamin C (ascorbic acid) | reduces iron (Fe3+ to Fe2+) good for methemoglobinemia hydroxylation of proline and lysine needed for dopamine beta-hydroxylase (DA to NE) deficiency: scurvy = swollen gums, bruising, petechiae, hemarthrosis, anemia, poor wound healing, perifollicular/subperiosteal hemorrhages, corkscrew hair excess leads to risk of iron toxicity | 86 | |
| 8506646521 | vitamin D | D2 = ergocalciferol D3 = cholecalciferol 25-OH D3: storage form 1,25-(OH)2 D3: calcitriol - active form increases absorption of calcium/phosphate deficiency: rickets in children osteomalacia in adults hypocalcemic tetany | 87 | |
| 8506657763 | vitamin E (tocopherol/tocotrienol) | protects RBCs and membranes from free radical damage deficiency: hemolytic anemia, acanthocytosis, muscle weakness, posterior column and spinocerebellar tract demyelination | 88 | |
| 8506710278 | zinc | important for zinc finger motif deficiency: poor wound healing, hypogonadism, decreased adult hair, dysgeusia, anosmia, acrodermatitis enteropathica | 89 | |
| 8506723518 | Kwashiorkor | protein malnutrition MEAL: malnutrition, edema, anemia, liver (fatty) | 90 | |
| 8506723946 | Marasmus | total calorie malnutrition: tissue and muscle wasting, loss of subcutaneous fat, variable edema | 91 | |
| 8508094750 | fomepizole | blocks alcohol dehydrogenase antidote for methanol and ethylene glycol NAD+ is limiting reagent | 92 | |
| 8508095318 | disulfiram | blocks acetaldehyde dehydrogenase NAD+ is limiting reagent | 93 | |
| 8508101178 | by-products of ethanol metabolism | lactate, malate (prevents gluconeogenesis), glycerol-3-phosphate (combines with fatty acids to make triglycerides) increased NADH:NAD ratio disfavors TCA cycle and favors ketogenesis/lipogenesis | 94 | |
| 8508112112 | metabolic processes in mitochondria | fatty acid oxidation (beta-oxidation) acetyl-CoA production TCA cycle oxidative phosphorylation ketogenesis | 95 | |
| 8508112726 | metabolic processes in cytoplasm | glycolysis fatty acid synthesis HMP shunt protein synthesis (RER) steroid synthesis cholesterol synthesis | 96 | |
| 8508116437 | metabolic processes in both mitochondria and cytoplasm | heme synthesis urea cycle gluconeogenesis | 97 | |
| 8508155736 | rate-limiting step: glycolysis | phosphofructokinase-1 (PFK-1) | 98 | |
| 8508156329 | rate-limiting step: gluconeogenesis | fructose-1,6-bisphosphatase | 99 | |
| 8508157263 | rate-limiting step: TCA cycle | isocitrate dehydrogenase | 100 | |
| 8508159385 | rate-limiting step: glycogenesis | glycogen synthase | 101 | |
| 8508169551 | rate-limiting step: HMP shunt | G6PD | 102 | |
| 8508170074 | rate-limiting step: de novo pyrimidine synthesis | CPS-2 (carbamoyl phosphate synthetase 2) | 103 | |
| 8508170760 | rate-limiting step: de novo purine synthesis | glutamine PRPP amidotransferase | 104 | |
| 8508171653 | rate-limiting step: urea cycle | CPS-1 (carbamoyl phosphate synthetase 1) | 105 | |
| 8508172128 | rate-limiting step: fatty acid synthesis | acetyl-CoA carboxylase | 106 | |
| 8508173315 | rate-limiting step: fatty acid oxidation | carnitine acyltransferase 1 | 107 | |
| 8508173548 | rate-limiting step: ketogenesis | HMG-CoA synthase | 108 | |
| 8508174075 | rate-limiting step: cholesterol synthesis | HMG-CoA reductase | 109 | |
| 8508353081 | pyruvate dehydrogenase complex | links glycolysis and TCA cycle pyruvate + NAD + CoA > acetyl-CoA + CO2 + NADH cofactors required: pyrophosphate (vit. B1) FAD (vit. B2) NAD (vit. B3) CoA (vit. B5) lipoic acid activated by exercise - rise in Ca, ADP, NAD:NADH | 110 | |
| 8508377289 | ketogenic amino acids | lysine and leucine | 111 | |
| 8508447558 | irreversible enzymes in gluconeogenesis | pyruvate carboxylase phosphoenolpyruvate carboxykinase fructose-1,6-bisphosphatase glucose-6-phosphatase | 112 | |
| 8508522827 | GP6D deficiency | Heinz bodies Bite cells NADPH is necessary to keep glutathione reduced, which detoxifies free radicals and peroxides. |  | 113 |
| 8508539711 | essential fructosuria | AR defect in fructokinase fructose in blood/urine | 114 | |
| 8508542395 | fructose intolerance | AR deficiency of aldolase B fructose-1-phosphate accumulates - inhibits glycogenolysis and gluconeogenesis urine dipstick will be negative (neg. for glucose) hypoglycemia, jaundice, cirrhosis, vomiting Tx: avoid fructose and sucrose | 115 | |
| 8508549998 | galactosemia | AR no galactose-1-phosphate uridyltransferase (G1PUT) accumulation of galactitol in lens of eye failure to thrive, jaundice, hepatomegaly, infantile cataracts, intellectual disability E. coli susceptibility in babies Tx: avoid galactose and lactose | 116 | |
| 8508758366 | N-acetylglutamate synthase deficiency | required cofactor for carbamoyl phosphate synthetase 1 leads to hyperammonemia | 117 | |
| 8508889372 | maple syrup urine disease | AR can't break down branched amino acids (isoleucine, leucine, valine) increased alpha-ketoacids in blood Tx: thaimine supplements, avoid branched aa's I Love Vermont maple syrup from branched trees. | 118 | |
| 8508910276 | alkaptonuria | AR deficiency of homogentisate oxidase homogentisic acid accumulates in tissue dark connective tissue, brown pigmented sclerae, urine turns black, arthralgia | 119 | |
| 8508975548 | cystinuria | AR can't reabsorb cysteine/ornithine/lysine/arginine precipitation of hexagonal cystine stones Tx: urinary alkalinization and chelating agents | 120 | |
| 8509032206 | glycogen storage diseases | Von Gierke disease (type I) Pompe disease (type II) Cori disease (type III) McArdle disease (type V) | 121 | |
| 8509040469 | von Gierke disease | AR severe fasting hypoglycemia high glycogen, high lactate, high triglycerides, high uric acid, hepatomegaly deficient glucose-6-phosphatase Tx: frequent oral glucose and cornstarch, avoid fructose/galactose | 122 | |
| 8509044739 | Pompe disease | AR trashed pumps - heart, liver, muscle deficient in lysosomal alpha-1,4-glucosidase cardiomegaly, HCM, exercise intolerance, systemic findings leading to early death | 123 | |
| 8509084489 | Cori disease | milder form of Von Gierke disease | 124 | |
| 8509085024 | McArdle disease | increased glycogen in muscle muscle cannot break down - painful muscle cramps, myoglobinuria, arrhythmia deficient in skeletal muscle glycogen phosphorylase Tx: vitamin B6 | 125 | |
| 8509113782 | Fabry disease | peripheral neuropathy of hands/feet angiokeratomas cardiovascular/renal disease deficiency of alpha-galactosidase A | 126 | |
| 8509116758 | Gaucher disease | deficiency in glucocerebrosidase most common hepatosplenomegaly pancytopenia osteoporosis aseptic necrosis of femur bone crises Gaucher cells (lipid-laden macrophages) Tx: recombinant glucocerebrosidase | 127 | |
| 8509118925 | Niemann-Pick disease | deficiency of sphingomyelinase progressive neurodegeneration hepatosplenomegaly foam cells (lipid-laden macrophages) cherry-red spot on macula No man picks his nose with his sphinger. | 128 | |
| 8509121636 | Tay-Sachs disease | deficiency in hexosaminidase A progressive neurodegeneration developmental delay cherry-red spot on macula lysosomes with onion skin no hepatosplenomegaly! Tay-SaX lacks heXosaminidase. | 129 | |
| 8509133710 | Krabbe disease | deficiency in galactocerebrosidase peripheral neuropathy, developmental delay, optic atrophy, optic atrophy, globoid cells | 130 | |
| 8509140050 | Hurler syndrome | developmental delay gargoylism airway obstruction corneal clouding hepatosplenomegaly deficiency in alpha-L-iduronidase | 131 | |
| 8509140954 | Hunter syndrome | X-linked recessive mild form of Hurler syndrome aggressive behavior no corneal clouding deficiency in iduronate sulfatase Hunters see clearly and aggressively aim for the X. | 132 |
