diseases and deficiencies - usmle / comlex

7/23/2019 Diseases and Deficiencies - USMLE / COMLEX

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Diseases and Defciencies

Disease

Adenosine Deaminase (ADA)Defciency

Albinism(complete-Tyrosinase negative oculocuaneous albinism

Alkaptonuria

Anderson DiseaseBeriberi

Carbamoylphosphate synthetase (CP!) Defciency

Celiac Disease (Celiac sprue)

Creut"#eldt-$akob disease% type o# transmissible spongi#orm encephalopathy

Cystic &ibrosis

Cystinuria

Diabetes 'ellitus Type !

Diabetes 'ellitus Type

Duchenne 'uscular Dystrophyhlers-Danlos yndrome (D)(*roup o# diseases o# connective tissue)

mphysema -genetic

ssential &ructosuria

&abry Disease

&olic Acid defciency

&ragile +-syndrome

&ructose ,ntolerance (&ructose poisoning)

*alactokinase Defciency

*alactosemia

*aucher Disease

*lucose -phosphate dehydrogenase(*PD) defciency

*out

.artnup Disorder

.bC-.emoglobin C Disease

.b- ickle Cell Disease

.bC Disease-.emoglobin C Disease

.emophilia A

.ereditary nonpolyposis colonrectal cancer (./PCC)-0ynch syndrome

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Disease

.ers Disease

.istidemia

.omocystinuria

.unter yndrome 'P ,,

.untington Disease

.urler yndrome 'P !.

.yperlipidemia Type ,1 .yperlipoproteinemia Type ,

.yperlipidemia Type ,,a1.yperlipoproteinemia Type ,,a1&amiliar .ypercholesterolemia (&.C)

.yperlipidemia Type ,,,1.yperlipoproteinemia Type ,,,(broad beta disease)1&amilial Dysbetalipoproteinemia

.yperlipidemia Type ,21 .ypertriglyceridemia

.yperlipidemia Type 2

.ypervitaminosis A

,-Cell Disease1*lycoprotein storage disease34ashiorkor

0actose ,ntolerance

0ecithin Acylcholesterol Trans#erase (0CAT) Defciency

0esch-/yhan syndrome

'aple yrup 5rine Disease

'arasmus

'ar#an yndrome

'cArdle yndrome1 *D Type 2

'edium-Chain Acyl-CoA Dehydrogenase Defciency ('CAD)

'ethemoglobinemia

'ethylmalonyl CoA mutase Defciency

'ytonic Dystrophy ,

/eonatal $aundice

/iemann-Pick Disease

6rnithine transcarbamoylase defciency

6rotic Aciduria

6steogenesis ,mper#ecta (6,)%Brittle Bone syndrome

Parkinson Disease

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Disease

Pellegra

Phenylketonuria

Pompe Disease1 *D Type ,,

Porphyria Cutanea TardaPorphyria% rythropoietic Protoporphyria

Porphyria%Acute ,ntermittent (A,P)

Pyruvate Dehydrogenase Defciency

Pyruvate 3inase Defciency

7ibo8avin defciency

7ickets

curvy

ly yndrome 'P 2,,

Tangier Disease

Tarui Disease

Tay-achs Disease

Tyrosinemia

2itamin A defciency

2itamin B! defciency

vitamin B defciency

2itamin 3 defciency

von *ierke Disease1 *D Type !a

2on 9illebrand Disease

9ernicke-3orsako: yndrome

+eroderma pigmentosum

Thallassemia-beta (α-Thallassemia)

Thallassemia-beta (β-Thallassemia)

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Defciency;Reason

ADA

Tyrosinase

homogentisic acid o;idase

Branching en"yme Thiamine-defciency

CP!

immune-mediated damage to small intestine due to response to the protein gluten

Prion Disease

amino acid tranport o# Cys< 6rnithine< Arg and 0ys (dibasic a=a=)

'utation in D'D% muscle dystrophin

Connective tissue diseases%de#ects in en"ymes in collagen synthesis<eg% lysyl hyro;ylase or procollagen peptidase

&ructokinase

&olic Acid(,nability to #orm T.& and derivatives)

;tended /ucleotide 7epeat% C** on + chromosome in >?untranslated region o# &'7! gene

Aldolase B

*alactokinase

5ridyltrans#erease

*lucocerebrosidase

*PD

.igh uric acid%5ndere;cretion o# uric acid1 6verproduction o# urice acid% target ;anthine o;idase

amino acid tranport o# Trp and other neutral a=a=

/P% *lu--@0ys on th position o# Beta subunit o# .b

/P% *lu--@2al on th position o# Beta subunit o# .b

'i;ture o# .b and .bC mutations on Beta subunits

&actor 2,,,

'utation in mismatch D/A 7epair

cystic fbrosis transmembrane conductance regulator (C&T7)

,nsulin production-autoimmune attack on pancreas1 destruction o# β-cells1

,nsulin resistance1 dys#unctional β-cells

α!-Antitrypsin defciency

α-*alactosidase A

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http://en.wikipedia.org/wiki/Cystic_fibrosis_transmembrane_conductance_regulator

http://en.wikipedia.org/wiki/Cystic_fibrosis_transmembrane_conductance_regulator




Defciency;Reason

.epatic alpha-glucanphosphorylase (*D Type 2,)

histidase

cystathionine synthase

,duronate sul#atasePolyglutamine e;pansion in the .untingtin gene

0ipoprotein 0ipase

0D0 receptors

.omo"ygous #or apo (poor binding o# chylomicron remnants and ,D0)

6verproduction o# 20D01Decreased clearing o# 20D0

,ncreased 20D0 and decreased 0ipoprotein lipase

e;cessive retinoids

phosphorylation o# mannose%0ysosomal acid hydrolyase is defcient due to inability to target proteins to lysosomesProtein defciency

0CAT1inability to esteri#y cholesterol

.ypo;anthine guanine phosphoribosyl trans#erase (.*P7T)

Calorie defciency

&ibrillin% Cannot #rom correct fbrils #or elastin% lose elasticity

'uscle *lycogen Phosphorylase

'CAD

/AD.-cytochrome b> reductase1 mutations in .b chians that cause &e o;idation--@&e

'ethylmalonyl CoA mutase

Bilirubin glucuronyltrans#erase

phigomyelinase

6rnithine transcarbamoylase

6rotate phosphoribosyl trans#erase and 6'P decarbo;ylase

'ost common mutation% -*ly-+-- replaced 4ith bulky a=a=--@ abnormal pro-alpha chains--@no triple-helical #ormation

α-0-iduronidase

0actase(β-galactosidase)

branched-chain α-keto acid dehydrogenase

DMPK: codes for myotonic dystrophy protein kinase

,nsuEcienct dopamine producing cells in brain% dopamine β-hydro;ylase

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Defciency;Reason

/iacin-defciency

Phenylalanine hyro;ylase(PA.) (Classic)-'ost Common inherited disease o# amino acid metabolism

5roporphyrinogen o;idase&errochelatase

.ydro;ymethylbilane synthase

PD.

Pyruvate 3inase

2it B

2itamin D defciency (!<> dihyro;ycholecalci#erol)

2it C 1 ascorbic acid

ABCA! transporter o# cholesterol out o# cells

'uscle Phospho#ructokinase (*D Type 2,,)

.e;osaminidase A

synthesis o# alpha chains% decreased or absent (o#ten times due to deletions)

synthesis o# beta chains% decreased or absent

#umarylacetoacetate hydrolase

7etinol

Cobalamin

Pyrido;amine

PhylloFuinone

*lucose -Phosphatase

von 9illebrand &actor (v9&)

Thiamine-defciency% primariy in associated 4ith chronic alcohlics

'utation in 52-damage repair o# D/A (nucleotide e;cision)

0ysosomal α(!--@G) *lucosidase

β-glucuronidase

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Biochemical Pathway

Purine degradation

'elanine synthesis (Tyrosine 'et)

Tyrosine 'etabolism

glycogen synthesis/utrition

5rea cycle

intestinal absorption

Protein &olding

Chloride Transport

a=a= absorption

*lucose Transport

*lucose Transport

'uscle Protein

Collagen

lastatin

&ructose 'etabolism

phingolipidoses

/utrition

Trinucleotide repeats

&ructose 'etabolism

*alactose 'etabolism

*alactose 'etabolism

phingolipidoses

PPP(.'P)

Purine degradation

a=a= absorption

.emoglobin

.emoglobin

.emoglobin

Coagulation

D/A 7epair

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Biochemical Pathway

*lycogenolysis

.istidine metabolism

'ethionine metabolism

*lycosaminoglycans Trinucleotide repeats

*lycosaminoglycans

0ipoproteins

0ipoproteins

0ipoproteins

0ipoproteins

0ipoproteins

/utrition

*lycoprotein storage/utrition

0actose metabolism

0ipoproteins

Purine lavage path4ay

2al< ,le< 0eu 'etabolism

/utrition

Connecive Tissue

*lycogenolysis

&atty Acid 6;idation

.emoglobin

Trinucleotide 7epeat%'uscle Protein

Bilirubin degradation

phingolipidoses

5rea cycle

Pyrimidine synthesis

Collagen

Catecholamine synthesis

6dd-chain #ats and α-keto acid 'et

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Biochemical Pathway

/utrition

Phe 'etabolism

*lycogenolysis

.eme ynthesis

.eme synthesis

.eme synthesis

Pyruvate

*lycolysis

/utrition

/utrition 1 7enal1 PT.

/utrition

*lycosaminoglycans

0ipoproteins

*lycolysis

phingolipidoses

.emoglobin

.emoglobin

Tyrosine metabolism

/utrition

/utrition

/utrition

/utrition1 AcFuired%Clotting Path4ay

*luconeogenesis

Coagulation

/utrition% Alcoholism

D/A 7epair

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Symptoms

evere combined ,mmunodefciency syndrome (C,D) by months%mortality Hyear< delayed and late onset%severe in#ections1 p

.ypopigmentation1 nastigmus1strabismus

6chronosis1 large Ioint arthritis1elevated homogentisic acid in urine (turns black on standing)

5nbranched glycogen0 amylose 4hich can preciptate in heart and liver(cirrhosis)--@ death by > year,n#antile% tachycardia< vomiting< convulsions< death1 Adult% dry skin< irritability< disorderly thinking< progressive paralysis

.yperammonemia1 metal retardation

Progressive death o# brain nerve cells due to prions1 dementia< ata;ia1sei"ures

alty skin1 accumulation o# mucus in membranes1#reFuent chest in#ections and coughing< shortness o# breath< pancreatitis

dibasic amino acids appear in urine1 kidney stones #ormed by precipitation o# Cys

.yperglycemia1 3etoacidosis1 .ypertriglycerolemia1atherosclerosis1 vascular disease1 neuropathy usually diagnosed in childhood

.yperosmolar .yperglycemia state(..)1 can develop into general organ dys#unction< heart< kidney< vascular1neuropathy1assoc

'uscle Degeneration1 loss o# ambulation1 death

.yperelasticity o# skin< hypere;tensibility o# Ioints1 abnormal 4ound healing1 easy bruising<#ragile blood vessels 4ith tendency #o

Damage to alveoli% distruction o# connecive tissue o# alveolar 4alls normally protected #rom proteases by alpha!-antitrypsin1 Typ

&ructosuria1benign

7eddish-purple skin rash13idney and .eart &ailure< Burning Pain in lo4er e;tremities

'egaloblastic Anemia1 /eural tube de#ects(pina bifda)

/o &'7! gene e;pression needed #or brain development1 most common inheritable cause o# mental retardation% 'ales severely

evere .ypoglycemia1 vomiting1Iaundice1hepatic #ailure

*alactosemia and *alactosuria1increase in galactitol

*alactosemia and *alactosuria1increase in galactitol1vomiting1diarrhea< Iaundice1'ental retardation

'ost common lysosomal storage disease1.epatosplenomegaly16steoporosis o# long bones

.emolytic Anemia

Acute and chronic gouty arthrities due to monosodium urate crystals deposited in Ioints1 deposition o# tophaceous material

pellegra-like dermatologic and neurologic symptoms%cerebral ata;ia

'ild< chronic hemolytic anemia

0i#elong episodes o# pain(crises)due to sickling o# 7BC --@ microin#arcts starting in childhood1chronic hemolytic anemia1 increase

'ay remain 4ell until su:er #rom in#arctive crisis-can be triggered by childbirth or surgery

Bleeding1 .ematomas1 inability to clot

.igh incidence o# colorectal cancer% increased risk o# other cancers< e=g= uterine cancer

*astrointestinal symptoms o# #at malabsorption%diarrhea< malodorous 8atulence< abdominal bloating< and(steatorrhea)=

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Symptoms

.epatomegaly1 relatively benign

levated levels o# histidine in blood and urine

'ental retardation1 osteoporosis1 'yocardial in#arction1lens ectopia1 accumulation o# homocystein in urine and 'ethionine and m

2ariation o# severity1/o corneal cluding1 physical de#ormity and metaol retardation variesAbnormal< involuntary Ierking body movements< unsteady gait< psychiatric changes< dementia1 appears in middle age

'ost severe #orm o# 'ucopolysaccaridoses%Corneal Clouding1'ental retardation< d4arfng<coarse #acial #eatures

Accumulation o# chylomicrons in plasma (J!KKKmgLdl)1 milky serum

levated 0D0 and plasma cholesterol (>KK-MKKmgLdl)1premature atherosclerosis1+anthomas

.ypercholesterolemia and premature atherosclerosis

.igh blood triglycerides< obesity< can be associated 4ith Type ,, diabetes1increased risk o# coronary atherosclerosis

.ypertiglyceridemia and hyperchylomicronemia

Dry and puritic skin<enlarged liver 4hich can become cirrhotic1 rise in intracranial pressure

keletal abnormalities< restricted Ioint movement< coarse #acila #eatures< severe psychomotor impairment1 Death by Myr

tunted gro4th< edema(deceptively plump belly)< skin lesions< depigmented hair< anore;ia1decreased plasma albumin

,ngestion o# lactose containing products causes diarrhea< abdominal cramps< 8atulence

,ncreased tissue cholesterol1 Di:use corneal opacities(&ish-eye disease-partial 0CAT defciency)1proteinuria<hepatic #ailure< hemol

'otor dys#unction< cognitive defcits<sel#-mutilation< hyperuricemia< gout< gouty arthritis

Arrested gro4th< e;treme muscle 4asting (emaciation)< 4eakness and anemia ( not edema)

0ens ectopia(displaced lens)1 elongation o# limbs1 arachnodactyly17upture o# an ascending aortic aneurysm is the most common

'uscle Cramping1'yglobinuria17elatively benign< chronic

Children sensitive to hypoglycemia1 has been connected to ,D1 can suddenly present 4ill 8u like syndromes

Chocolate cyanosis%bro4nish-blude o# membranes1 chocolate-colored blood due to met.b1 Tissue hypo;ia1 an;iety< headaches< d

'etabolic acidosis1 developmental problems1 elevated levels o# methyl-malonyl CoA in blood

Type o# muscular dystrophy1 muscle 4asting1myotonia< muscle 4eakness

5sually in premature in#ants1levated bilirubin that di:uses into tissue% yello4 hue% can lead to kernicterus(to;ic encephalapathy

.epatosplenomegaly1 /eurodegenerative1 accumulation o# sphingomyelin

.yperammonemia1 mental retardation

'egaloblastic anemia1 poor gro4th1 large amounts o# orotate in urine

Bones easily bend or #racture1 retarded 4ound healing1 rotated and t4isted spine Nhumped-backN1 Type ,, #etus dies in utero

Bradykinesia1 tremors< rigidity< poor balance< parkinsonian gait

/eurologic problems1 high mortality1 branched chain a a= and α-keto analogs are elevated in plasma and urine

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Symptoms

D?s% Dermatitis< Diarrhea< Dementia and i# untreated death

5rine has NmustyNodor1 levated levels o# Phe in urine< tissue < plasma1 'ental retardation< #ailure to 4alk or talk< microcephaly

Cardiomegaly1,n#antile #orm%death;cess *lycogen in lysosomal vacuoles

A:ects hepatic and erythropoietic tissues1Photosensitivity1 'ost common type o# porphyria1 5roporphyrin accumulates in urine% Type o# erythropoietic porphyria1Photosensitivity1 Protoporphrin accumulates in erythrocytes< bone marro4 and plasma

Abdominal pain occurs in OK-O> o# the attacks= ome patients develop psychiatric symptoms such as psychosis similar to schi"

0actic acidosis

.emolytic Anemia

Dermatitis< cheilosis(fssuring at the corner o# mouth)< glossitis(tongue smooth and purple)

Deminerali"ation o# bone1 6steomalacia in adults17enal% decreased synthesis o# kidney o# active 2it D1 PT.% 0ack o# PT. to stim

ore and spongy gums< loose teeth< #ragile blood vessels< s4ollen Ioints

Corneal cluding<hepatosplenomegaly< skeletal de#ormity< short stature< mental defciency

.ypocholesterolemia1 nlarged 6range-yello4 tonsils(cholesrerol deposits)1.epatomegaly and splenomegaly1decreased .D0

/ormal glycogen in muscle< muscle cramping1 myoglobinuria

7apid and progessive neurodegeneration1 Cherry-red macula1 blindness< msucular 4eakness< death by yr1accumulation o# *'

Cabbage like odor1 liver #ailure1 renal acidosis1 accumulation o# #umarylacetacetate and succinyl acetone in urine

Defciency% /ight blindness1 severe defciency% ;erophthalmia%(dry eye 4hich can lead to corneal ulceration and blindness

,ntrinsic &actor %Pernicious Anemia--@ irreversible neuropsychiatric symptoms% /utritional% vegan1 'alnutrition1 'egaloblastic ane

.ypoprothrombinemia1 bleeding1 'ay be due to malabsorption o# #at

&asting hypoglycemia1 .yperlactacidemia< .yperlidpidemia< .yperuricemia1;cessive .epatic *lycogen stores Tendency to Bleed< /osebleeds<most common inherited coagulation abnormality in humans

3orsako: syndrome%Apathy< loss o# memory hallucinations1 9ernicke encephalopathy% nystagmus< double vision< ata;ia

ensitive to 52 light-Tissue scarring--@ can lead to partial lose o# tissue (nose etc)

Trait% de#ective alpha-gene1 de#ective genes%.bBart γ G or .b. βG%chronic hemolytic anemia o# variable severity1 G de#ective ge

Trait%! de#ective beta-gene1 Cooleys anemia% both β-genes de#ective%does not present until later in frst or second year1Anemia-bl

eborrhoeic dermatitis-like eruption< glossitis 4ith ulceration< angular cheilitis< conIunctivitis< neurologic symptoms o# somnolenc

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Genetics

7ecessive

7ecessive

7ecessive

7ecessive7ecessive

7ecessive

7ecessive

AcFuired

7ecessive1 /e4born creening

7ecessive

+-linked

ome DominantLsome recessive

autosomal codominant pattern

7ecessive

+-linked

AcFuiredL*enetic(7ecessive)

+-linked

7ecessive

7ecessive

7ecessive%/e4born screening

7ecessive'ultiple Types1 Class ,2@K en"yme activity

7ecessive

7ecessive

7ecessive

7ecessive1/e4born creening

7ecessive

+-linked

Dominant

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Genetics

7ecessive

7ecessive

7ecessive% /e4born creening

+-linkedDominant

7ecessive

7ecessive

Dominant

7ecessive

7ecessive

7ecessive

AcFuired

7ecessive

AcFuired

primary%aging1secondary% il lness or inIury to small intestine1Congenital%recessive

7ecessive

+-linked


AcFuired

Dominant

7ecessive


7ecessive

7ecessive

Dominant

7ecessive

7ecessive

+-linked

7ecessive

Dominant

ome #orms are 7ecessiveLDominant depending on mutation

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Genetics

AcFuired


7ecessive

DominantDominant

Dominant

+-linked but dominant('ale and #emales)

7ecessive

AcFuired

AcFuired

AcFuired

7ecessive

7ecessive

7ecessive

7ecessive

7ecessive

7ecessive


AcFuired

AcFuired

AcFuired

7ecessive

7ecessiveDominantL7ecessive

7ecessive

7ecessive

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diseases and deficiencies - usmle / comlex

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