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182 Cards in this Set

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Exceptions to universal genetic code
Mitochondria, archaebacteria, Mycoplasma, and some yeast
Type of DNA repair for T-T dimers?
Nucleotide excision repair (mutated in xeroderma pigmentosum)
Type of DNA repair for oxidized, alkylated, or deaminated bases?
Base excision repair
Condition due to defect in DNA mismatch repair
Hereditary nonpolyposis colorectal cancer (HNPCC) (microsatellite instability)
Which prokaryotic DNA polymerase has 5' --> 3' exonuclease activity?
DNA Pol 1 (degrades RNA primers)
What is alpha amanitin and what does it cause if ingested?
It inhibits RNA polymerase II (normally makes mRNA) and causes liver failure if ingested.
What is the initial eukaryotic RNA transcript called? (before processing)
heterogeneous nuclear RNA (hnRNA)
Who makes antibodies to spliceosomal snRNPs?
Patients with lupus!
Which enzyme is responsible for matching anticodons to the correct amino acids? Where does the energy come from?
Aminoacyl-tRNA synthetase (uses ATP)

Binding of the charged tRNA to the codon uses GTP.
Which ribosomal subunit does the mRNA first bind to?
The small one - 40S in eukaryotes, 30S in prokaryotes (with the help of eIFs)
What are 4 examples of permanent cells (remain in G0)?
Neurons, Cardiac cells, RBCs, Skeletal muscle cells
What are two examples of stable/quiescent cells?
Hepatocytes & Lymphocytes
What are 4 examples of labile cells?
Bone marrow, Gut epithelium, Skin, Hair Follicles
List several cell types rich in RER
Goblet cells (secrete mucus), plasma cells (secrete Abs), neurons (Nissl bodies, make enzymes/neurotransmitters)
List several cell types rich in SER
Liver hepatocytes, gonads, and adrenal cortex (SER = steroid hormone synthesis, drug/poison detox)
Disease? Coarse facial features, clouded cornea, restricted joint movement, high plasma levels of lysosomal enzymes
I-cell disease
What does the Golgi apparatus do involving oligosaccharides?
MODIFIES N-oligosacc on asn and ADDS O-oligosacc to ser and thr
What are COP1 and COP2?
Vesicular trafficking proteins: COP I (Golgi to ER), COP II (RER to cis Golgi)
What happens between pro-collagen and tropocollagen?
It is exocytosed from the cell & the terminals are cleaved.
What happens between pre-pro-collagen and pro-collagen?
It is hydroxylated (on proline and lysine) (with the help of Vit C) and glycosylated (on lysine) to become a triple helix
Describe the cross-linking of collagen.
It is covalently cross linked at lysine-hydroxylysine residues by lysyl oxidase (which uses Cu). Defect causes Ehlers-Danlos.
What do desmin and vimentin stain for? What are they?
Desmin = muscle
Vimentin = connective tissue
They are both intermediate filaments.
Disease? Recurrent pyogenic infections, partial albinism, and peripheral neuropathy
Chediak-Higashi syndrome (microtubule polymerization defect)
Disease? Male & female infertility, bronchiectasis, recurrent sinusitis, situs invertus
Kartagener's syndrome (immotile cilia - dynein arm defect)
What are microtubules made of?
Alpha and beta tubulin dimer helices (each dimer has 2 GTP bound)
Disease? Multiple fractures, blue sclerae, hearing loss, dental imperfections, often confused with child abuse
Osteogenesis imperfecta (brittle bone disease) (type I collagen)
Disease? Hyperextensible joints, easy bleeding, hypermobile joints, berry aneurysms/organ rupture
Ehler's Danlos (type III collagen)
Disease? Hereditary nephritis and deafness, ocular disturbances
Alport's syndrome (type IV collagen)
Name 2 diseases of elastin & their pathophys
Marfan's syndrome (fibrillin defect) and emphysema (alpha-1-antitrypsin deficiency)
Disease? Mental retardation, seizures, ataxia, inappropriate laughter
Angelman's syndrome
Disease? Mental retardation, hyperphagia, obesity, hypogonadism, hypotonia
Prader-Willi syndrome
Definition of heteroplasmy
Presence of both normal and mutated mtDNA --> results in variable expression of mitochondrial inherited disease
What is X inactivation in females called? What can it cause if it's random?
Lyonization. Can cause mosaicism if random.
Dominant negative effect definition
A heterozygote produces a nonfunctional altered protein that also prevents the normal gene product from functioning (ex: mutated tx factor that can still bind DNA)
Marfanoid habitus can be caused by Marfan's syndrome, MEN 2B, and homocystinuria. What genetic term is this an example of?
Locus heterogeneity (mutations at different loci can produce the same phenotype)
Inheritance of hypophosphatemic rickets
X-linked DOMINANT (phosphate wasting at proximal tubule)
Pathophys of Leber's hereditary optic neuropathy
degeneration of retinal ganglion cells and axons --> acute loss of central vision
Disease/cause? Microcephaly, mental retardation, high pitched crying, epicanthal folds, cardiac abnormalities
Cri-du-chat syndrome (microdeletion of short arm of chromosome 5)
Symptoms of Williams syndrome (microdeletion of long arm of chromosome 7)
"elfin" facies, mental retardation, hyper-Ca, well developed verbal skills, friendliness, CV problems
Trinucleotide repeats: CAG, GAA, CTG, CGG. Diseases?
Huntington's (CAG), Friedrich's ataxia (GAA), Myotonic dystrophy (CTG), Fragile X (CGG)
Pregnancy quad screen results in Down syndrome
Low AFP, low estriol, high beta-HCG, high inhibin A
Shared symptoms between Edwards' and Patau's syndromes
Severe mental retardation, rocker-bottom feet, congenital heart disease
The "P"s of Patau's syndrome
"Puberty" chromosome (13), cleft lip/Palate, holoProsencephaly, Polydactyly
Disease? Micrognathia, low set ears, clenched hands, prominent occiput, death within 1 year
Edwards' Syndrome (trisomy 18)
Disease? Telangiectasia, recurrent epistaxis, skin discoloration, AVM
Hereditary hemorrhagic telangiectasis (Osler-Weber-Rendu syndrome)
Findings with NF1 (von Recklinghausen's disease)?
cafe-au-lait spots, neural tumors, Lisch nodules (pigmented iris hamartomas), scoliosis, optic pathway glioma
Pathophys of VHL?
Deletion of VHL (tumor suppressor) gene (chromosome 3) --> constitutive expression of HIF (txn factor) --> activation of angiogenic growth factors
Findings with Fragile X (FMR1 gene)
eXtra-large testes, jaw, & ears, autism, mitral valve prolapse
How are muscular dystrophies diagnosed?
Muscle biopsy and increased CPK
Several uses of N-acetylcysteine
CF (loosen mucus plugs), prevent kidney disease due to dye, acetaminophen overdose
2 enzymes that B12 is a cofactor for
Homocysteine methyltransferase (Homocys --> met) and methylmanolyl-CoA mutase (methylmal-CoA --> succinyl CoA)
Form of methionine that transfers methyl unit
S-adenosyl-methione (SAM) (regeneration is dependent on B12 and folate)
Dermatitis, enteritis, alopecia, adrenal insufficiency. Vitamin deficiency?
Vitamin B5 (pantothenate). Could also be biotin.
Causes of pellagra (B3 deficiency)?
Hartnup disease, carcinoid syndrome, INH (dec B6)
What types of tissue does B1 deficiency affect first?
Highly aerobic tissues (brain and heart) affected first --> polyneuritis, high output heart failure, Wernicke-Korsakoff, etc
Cheilosis, corneal vascularization. Vitamin deficiency?
B2 (riboflavin)
Convulsions, hyperirritability, peripheral neuropathy, sideroblastic anemia. Vitamin deficiency?
B6 (pyridoxine)
Weak immune response, swollen gums, bruising, hemarthrosis, anemia, poor wound healing. Vitamin deficiency?
Vitamin C (scurvy)
Increased fragility of erythrocytes, muscle weakness, posterior column/spinocerebellar tract demyelination. Vitamin deficiency?
Vitamin E (antioxidant)
Biotin is a cofactor for what type of reaction?
Carboxylation!

Pyruvate carboxylase, Acetyl-CoA carboxylase, and Propionyl CoA carboxylase
How does ethanol cause hypoglycemia? What else is a consequence of this mechanism?
Increases NADH/NAD+ ratio in liver --> diverts pyr to lactate and OAA to malate --> inhibits gluconeogenesis. ALSO causes fatty change in liver due to increased fatty acid synthesis.
Decreased adult hair, delayed wound healing, hypogonadism, dysgeusia, anosmia. Deficiency?
Zinc
Inhibitor of alcohol dehydrogenase and use?
Fomepizole. Used as antidote for methanol or ethylene glycol poisoning.
4 uses of NADPH
1. Anabolic reactions
2. Respiratory burst (NADPH oxidase)
3. P-450 reductase
4. Glutathione reductase (GSSG --> GSH)
Which 3 pathways take place in both the mitochondria and the cytosol?
Heme synthesis, Urea cycle, Gluconeogenesis (HUGs take "two")
TPP: Vitamin it comes from and enzymes it's a cofactor for?
From Vitamin B1 (thiamine). Cofactor for PDH (glycolysis), alpha-KG Dhase (TCA), TK (HMP shunt), branched-chain aa Dhase
4 things pyruvate can be converted to
Alanine (via ALT), oxaloacetate (PC), acetyl CoA (PDH), lactate (LDH)
Findings with arsenic intake
Rice water stool, garlic breath, and vomiting
Cofactors for PDH
TPP (B1), FAD (B2), lipoic acid, NADH (B3), CoA (B5)
Oligomycin inhibits what?
ATPase --> proton gradient builds up
What 2 types of oxidative phosphorylation poisons DECREASE the proton gradient?
Electron transport inhibitors (rotenone, CN-, antimycin A, and CO) and uncoupling agents (2,4-DNP and aspirin)
Do odd or even chain FAs produce products that can undergo gluconeogenesis?
ODD chain FAs (propionyl CoA → methylmalonyl CoA → succinyl CoA → OAA → gluconeogenesis)
Most common human enzyme deficiency & histo findings?
G6PD. See Heinz bodies (oxidized Hgb) and Bite cells.
Aldolase A vs B?
Aldolase A: present in normal glycolysis (F-1,6-BP to DHAP and G3P).

Aldolase B: breaks down F-1-P to DHAP and glyceraldehyde.
What sugar can cause infantile cataracts?
Galactose (via galactitol). Enzyme deficiencies include galactokinase or galactose-1-phosphate uridyltransferase.
Why does sorbitol accumulate in the lens, retina, and kidney, and Schwann cells?
They have aldose reductase (glucose → sorbitol) BUT lack sorbitol Dhase, which would otherwise convert sorbitol to fructose.
Ketogenic only amino acids?
Leu and Lys (used as treatment for PDH deficiency)
Glucogenic only amino acids?
Val, Arg, His, Met (“Valium Are His Methods”)
Glucogenic AND ketogenic amino acids?
Ile, Phe, Thr, Trp
Which steps of the urea cycle occur in the mitochondria?
Carbamoyl phosphate synthetase I (rate limiting step) and ornithine transcarbamoylase
What are two hyperammonemia treatments that bind amino acids and lead to their excretion?
Phenylbutyrate and benzoate
What reaction is SAM used as a methyl donor for?
NE to Epi and DNA methylation (imprinting)
What 3 compounds arise from arginine?
Creatine, Urea, NO
What form does glucose need to be in to be utilized for glycogen?
UDP-glucose (glucose-1-phosphate is immediate precursor)
List 3 causes of albinism.
1) Deficiency of tyrosinase (synthesis of melanin from tyrosine), 2) Defective tyrosine transporters, 3) Lack of migration of NCCs
3 causes of homocystinuria.
1) Cystathionine synthase deficiency, 2) Decreased affinity of cystathionine synthetase for PLP (B6), 3) Homocysteine methyltransferase deficiency
Disease? FTT, steatorrhea, acanthocytosis, ataxia, night blindness.
Abetalipoproteinemia (deficient apoB-100 and apoB-48)
How much energy do you get from 1g of protein or carb compared to 1g of fat?
1 g protein/carb = 4kcal, 1 g fat = 9kcal
Which has greater muscle wasting: kwashiorkor or marasmus?
Marasmus. "M" for "muscle" wasting.
Top 2 causes of mental retardation as a result of chromosomal abnormality?
1. Down syndrome
2. Fragile X syndrome

Fragile X is top cause of INHERITED mental retardation.
Amino acids necessary for purine synthesis?
Glutamine
Aspartate
Glycine
Compounds that comprise purine ring?
Glutamine
N10-Formyl-THF
Glycine
Aspartate
CO2
Components of pyrimidine ring?
Cabamoyl phosphate and Aspartate
Pathway from UMP to dTMP?
UMP --> UDP --> dUDP --> dUMP --> dTMP
What inhibits ribonucleotide reductase?
Hydroxyurea
What does 5-FU inhibit?
Thymidylate synthase
(dUMP --> dTMP)
Effect of 6-mercaptopurine (6-MP)?
Blocks de novo purine synthesis (at several steps)
CPS II catalyzes what reaction?
ATP + CO2 + gln --> carbamoyl phosphate

- 1st step of de novo pyrimidine synthesis
GMP, IMP, and AMP breakdown?
GMP --> guanosine --> guanine
IMP --> inosine --> hypoxanthine
AMP --> adenosine --> inosine --> hypoxanthine

--> xanthine --> uric acid
What kind of DNA repair is used for dsDNA breaks (as a result of ionizing radiation)?
Nonhomologous end joining
- brings together 2 ends of DNA fragments
First step of nucleotide vs base excision repair?
Nucleotide excision: **endonuclease** releases oligonucleotide with damaged bases

Base excision: specific **glycosylases** recognize and remove damaged DNA bases
Key intron nucleotides?
Exon 1 -- GU ------ A ------ AG -- Exon 2
What happens to introns after splicing?
They stay in the nucleus
Eukaryotic vs prokaryotic RNA polymerase?
Prokaryotes: 1 RNA polymerase makes all 3 kinds of RNA

Eukaryotes: RNA Pol I (rRNA), RNA Pol II (mRNA), RNA Pol III (tRNA)
Polyadenylation signal? Corresponding sequence at 3' end of DNA strand?
AAUAAA

On DNA: AATAAA
AUG significance in eukaryotes vs prokaryotes?
Eukaryotes: codes for methionine

Prokaryotes: codes for formyl-methionine (f-Met)
How much energy does the aa-tRNA bond contain?
Enough for the formation of the peptide bone.

- Aminoacyl tRNA synthetase uses ATP to form the bond
Different aspects of tRNA structure?
Acceptor stem (covalently binds aa)
T loop (binds ribosomes)
Variable loop
Anticodon loop
D loop (has dihydrouracil)
What do aminoglycosides inhibit?
Formation of the initiation complex --> cause misreading of mRNA
What is needed for translation initiation?
GTP for translocation, initiation factors (eIFs), and 40S ribosomal subunit with initiator tRNA
Site of addition of N-linked vs O-linked oligosaccharides?
N-linked oligosacchs: added in RER --> modified in Golgi

O-linked oligosacch: added to serine and threonine residues in Golgi
Cyclins and CDKs: which are constitutively active?
CDKs: constitutive and inactive

Cyclins: phase specific, activate CDKs
Location of Type I collagen?
Bone, Skin, Tendon, Dentin, Fascia, Cornea, Late wound repair
Location of Type II collagen?
Cartilage (including hyaline), Vitreous body, Nucleus pulposus
Location of Type III collagen (reticulin)?
Skin, Blood vessels, Uterus, Fetal tissue, Granulation tissue
Location of Type IV collagen?
Basement membrane or Basal lamina
What form of collagen is exocytosed from the fibroblast?
Pro-collagen
- terminal regions are cleaved outside the fibroblast, converting it to tropocollagen
Cytoskeletal elements made from actin and myosin?
Microvilli
Muscle contraction
Cytokinesis
Adherens junction
Cytoskeletal elements made from microtubules?
Cilia
Flagella
Mitotic spindle
Neurons
Centrioles
Cytoskeletal elements made from intermediate filaments?
Vimentin
Desmin
Cytokeratin
Glial fibrillary acid protein (GFAP)
Neurofilaments
Drugs that act on microtubules?
1. Mebendazole/thiabendazole
2. Griseofulvin
3. Vincristine/vinblastine
4. Paclitaxel
5. Colchicine
What does a southwestern blot identify?
DNA binding proteins by their binding to oligonucleotides
Elastin composition and locations where it's found?
Lungs, large arteries, elastic ligaments, vocal cords, ligamenta flava

Rich in non-glycosylated glycine and proline.
What types of diseases have variable expression in the population due to heteroplasmy?
Diseases w/ mitochondrial inheritance

Ex: mito myopathies, Leber's hereditary optic neuropathy
X-linked mucopolysaccharidosis and sphingolipidosis?
Mucopolysaccharidosis: Hunter's

Sphingolipidosis: Fabry's

(All of the rest of each are autosomal recessive)
In what muscles does weakness begin in Duchenne's muscular dystrophy?
Begins in pelvic girdle muscles and progresses superiorly
Gene defect in Fragile X?
FMR1 gene
- methylation and expression are affected
Microdeletions: Short arm of chromosome 5? Long arm of chromosome 7?
Cri-du-chat: short arm of 5

Williams: long arm of 7
- deleted region includes elastin gene
What does ultrasound show in Down syndrome?
Nuchal translucency
Genetic causes of Down syndrome?
95% meiotic non-disjunction (associated w/ AMA)
4% robertsonian translocation
1% Down mosaicism (no maternal assoc)
Telangiectasia, recurrent epistaxis, skin discolorations, AVMs. Disease?
Osler-Weber-Rendu syndrome
(hereditary hemorrhagic telangiectasia)
Juvenile cataracts and bilateral acoustic schwannomas. Disease?
Neurofibromatosis type 2
- NF2 gene on chromosome 22
What can worsen thiamine (B1) deficiency?
Glucose infusion
- impaired glucose breakdown/ATP depletion
Function of vitamin B5 (pantothenate)?
Essential component of CoA (cofactor for acyl transfers) and fatty acid synthase
Functions of vitamin B6 (pyridoxine)?
Converted to PLP which is used in:
Transamination (ALT/AST)
Decarboxylation reactions
Glycogen phosphorylase
Cystathionine synthesis
Heme synthesis
Who is folic acid deficiency commonly seen in?
Alcoholics and pregnancy/OCP use.

Also elderly, goat's milk, and malabsorption.
Location of alcohol vs aldehyde dehydrogenase?
Alcohol dhase: in cytosol

Aldehyde dhase: in mitochondria
Rate limiting step of gluconeogenesis?
Fructose-1,6-bisphosphatase
Rate limiting step of TCA cycle?
Isocitrate dehydrogenase
Rate limiting step of glycogen synthesis and glycogenolysis?
Glycogen synthesis: glycogen synthase

Glycogenolysis: glycogen phosphorylase
Rate limiting step of fatty acid synthesis and oxidation?
FA synthesis: Acetyl-CoA carboxylase (ACC)

FA oxidation: Carnitine acyltransferase I
3 factors that are increased in exercise and activate PDH?
Increased NAD+/NADH ratio
Increased ADP
Increased Ca
Where is anaerobic glycolysis the major form of glycolysis?
RBCs
Leukocytes
Kidney medulla
Lens
Testes
Cornea
Names and locations of irreversible enzymes in gluconeogenesis?
Glucose-6-phosphatase: ER
Fructose-1,6-bisphosphatase: cytosol
PEP carboxykinase: cytosol
Pyruvate carboxylase: mitochondria
Energy source of pyruvate carboxylase and PEP carboxykinase?
Pyruvate carboxylase: uses ATP
(also uses biotin as a cofactor)
- activated by acetyl CoA

PEP carboxykinase: uses GTP
Transketolases participate in which part of the HMP shunt?
Nonoxidative (reversible)

Ribulose-5-P --> TK --> Ribose-5-P, G3P, F6P
Products of the oxidative (irreversible) part of the HMP shunt?
CO2, 2 NADPH, and Ribulose-5-P

Catalyzed by Glucose-6-P-Dhase
Sites in body where HMP shunt takes place?
Lactating mammary glands, liver, adrenal cortex, RBCs
Two ways that NADH can enter the mitochondria?
Malate-aspartate shuttle
Glycerol-3-phosphate shuttle
Effects of aldolase B deficiency?
Fructose intolerance
- Fructose-1-phosphate accumulates --> decreases available phosphate --> inhibits glycogenolysis and gluconeogenesis
- Hypoglycemia, jaundice, cirrhosis, vomiting
How might galactokinase deficiency present?
May initially present as failure to track objects or to develop a social smile.
Pathway of reduction starting with G6P?
G6P reduces NADP+ --> NADPH reduces GS-SG --> GSH reduces H2O2 --> 2H2O

H2O2 comes from respiratory burst or from invading organisms
What does catalase do?
Catalase uses GSH to reduce H2O2 to H2O (and GSSG)

Catalase positive organisms neutralize their own H2O2 (bad for patients with CGD)
Signs of ammonia intoxication?
Tremor, Slurring of speech, Somnolence, Vomiting, Cerebral Edema, Blurred Vision
Which amino acids are required during periods of growth?
His, Arg
PNMT catalyzes what reaction?
NE --> Epi

Stimulated by cortisol from venous drainage from adrenal cortex through medulla.
B6 is required for amino acid conversions into what?
Tryptophan --> Niacin
Histidine --> Histamine
Glycine --> porphyrin
Glutamate --> GABA
Pathway from glucose to glycogen?
Glucose-6-phosphate --> glucose-1-phosphate --> UDP-glucose --> glycogen
Glycogen phosphorylase: active in phosphorylated or dephosphorylated state?
Active when phosphorylated --> glycogenolysis

Intracellular Ca/calmodulin phosphorylates glycogen phosphorylase kinase which phosphorylates glycogen phosphorylase
What 2 factors increase cAMP to stimulate glycogenolysis?
Glucagon (liver) and Epinephrine (liver and muscle)
--> Effect is to activate PKA which phosphorylates glycogen phosphorylase kinase

Insulin leads to activation of protein phosphatase.
Cause of cystinuria?
Hereditary defect of renal tubular amino acid transporter for cysteine, ornithine, lysine, and arginine in the PCT of the kidneys.
Cystine kidney stones and treatment?
Cystine staghorn calculi. Hexagonal in shape.

Treat with acetazolamine to alkalinize the urine.
Findings in alkaptonuria (ochronosis)?
Dark connective tissue, brown pigmented sclera, urine that turns black on standing, debilitating arthralgias.

Caused by homogentisic acid oxidase deficiency --> buildup of homogentisate
Von Gierke's vs Cori's disease?
Cori's: milder form of Von Gierke's
- gluconeogenesis is still intact because glucose-6-phosphatase is intact
- defect is debranching enzyme (alpha-1,6-glucosidase)
Muscle cramps but no lactic acid with exercise. Disease?
McArdle's disease (type V glycogen storage disease)
- deficient skeletal muscle glycogen phosphorylase (myophosphorylase)
At what point do ketone bodies become the main source of energy for the brain and heart?
After 3rd day of starvation
- amount of adipose store determines survival time
HMG CoA reductase reaction?
HMG CoA to mevalonate

2/3 of plasma cholesterol ends up being esterified by lecithin-cholesterol acyltransferase (LCAT)
What are ketone bodies made from and metabolized to?
Made from HMG CoA

Metabolized by brain to 2 molecules of acetyl CoA
Deficiency of carnitine results in what?
Inability to transport LCFAs into mitochondria --> results in toxic accumulation.

Causes weakness, hypotonia, and hypoketotic hypoglycemia.
Changes in acyl-CoA dehydrogenase deficiency?
Increased dicarboxylic acids
Decreased glucose and ketones
What does A-I apolipoprotein do?
Activates LCAT
What do apolipoproteins E3 and E4 do?
VLDL and chylomicron remnant uptake
What does HDL act as a repository for?
ApoC and ApoE (needed for chylomicron and VLDL metabolism)
Hepatic overproduction of VLDL causes what type of familial dyslipidemia?
Type IV - hypertriglyceridemia
LPL or altered apolipoprotein C-II cause what type of familial dyslipidemia?
Type I - hyperchylomicronemia
- elevated chylomicrons
- causes pancreatitis, hepatosplenomegaly, eruptive/pruritic xanthomas
Absent or decreased LDL receptors cause what type of familial dyslipidemia?
Type IIa - familial hypercholesterolemia
- increased LDL/cholesterol
- causes atherosclerosis, tendon (Achilles) xanthomas, corneal arcus
Beta-glucocerebrosidase deficiency causes buildup of what and what disease?
Buildup of Glucocerebrosides

Gaucher's disease (most common sphingolipidosis)
Alpha-galactosidase deficiency causes buildup of what and what disease?
Ceramide trihexoside buildup

Fabry's disease (angiokeratoma corporis diffusum)
Finding in Krabbe's disease and defect?
Peripheral neuropathy, developmental delay, optic atrophy, globoid cells.

Deficient galactocerebrosidase --> buildup of galactocerebroside
Findings in Hurler's syndrome?
Developmental delay, gargoylism, airway obstruction, corneal clouding, short neck, CAD, hepatosplenomegaly
Enzyme deficiency in Hurler vs Hunter's syndrome?
Hurler's: alpha-L-iduronidase

Hunter's: iduronate sulfatase
Metachromatic leukodystrophy?
Central and peripheral demyelination with ataxia & dementia.

Deficient arylsulfatase A leads to buildup of cerebroside sulfate (sulfatides)