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 |