All Post Midterm Disorders

Question 1

Seizure disorder associated with low GABA

Answer 1

epilepsy, treat with GABA analogs

Question 2

autoimmune destruction of CNS myelin (oligodendrocytes)

Answer 2

Multiple sclerosis

Question 3

Infection by eating infected nervous tissue or sporadic misfolding. Once ingested or misfolded, the prion (PrPsc) begins to misfold

Answer 3

Creutzfeldt-Jakob disease (prion disease)

Question 4

Fragments of the β-amyloid precursor protein accumulate into plaques containing hyper phosphorylated tau protein.

Answer 4

ALZHEIMER’S

Question 5

Autosomal recessive deficit of CFTR (found in the long arm of chromosome 7), which is a chloride channel. Absence of this channel prevents normal release of chlorine, preventing the subsequent flow of water. This leads to thick mucous, salty sweat, and other similar problems.

Answer 5

Cystic Fibrosis

Sweat chloride test, genetic test (ASO), Southern blotting, and PCR.

Question 6

Emaciation with central abdominal edema. Can also occur in healthy weight and obese individuals. Decreased immunity, inability to produce new intestinal epithelial (therefore decreased absorption of nutrients).

Answer 6

KWASHIORKOR

Question 7

X-linked genetic disorder causing the absence of dystrophin.

Presentation: Gower’s sign Progressive muscle weakness, thick calves, foot drop, belly sticks out, and/or poor balance.

Answer 7

DUCHENNE MUSCULAR DYSTROPHY

Question 8

X-linked genetic disorder causing partial deficit of dystrophin

Answer 8

Beckers

Question 9

Autosomal recessive disorder characterized by a deficiency in α-L-Iduronidase (Iduronidase for short), which is an enzyme that breaks down mucopolysaccharides.
This causes a build-up of dermatan sulfate and heparan sulfate, which gets deposited in blood vessels such as the coronary arteries. CORNEAL CLOUDING

Answer 9

Hurlers

Question 10

Autosomal recessive disorder causing a deficiency in β-Hexosaminidase A, which is an enzyme that breaks down sphingolipids.
This causes a buildup of ganglioside (GM2).

Cherry red spot on macula. Neuron histology has ONION SHELL like inclusions in lysosomes.

Answer 10

Tay-Tay

Question 11

X-linked disorder characterized by a deficiency in iduronate sulfatase, which is an enzyme the breaks down mucopolysaccharides.
This causes a build-up of dermatan sulfate and heparan sulfate. no corneal clouding

Answer 11

Hunters

Question 12

Deficiency in β-Glucosidase, which is an enzyme that breaks down sphingolipids.
This causes a buildup of glucosyl ceramide.
elongated lysosomes filled with glucocerebroside, giving it the appearance of “CRUMPLED TISSUE PAPER.”

Answer 12

Gauchers

Question 13

Autosomal recessive disorder causing a deficiency in lysosomal α-glucosidase.
This causes a buildup of glycogen in heart, muscles, kidneys, and livers within the lysosomes.

Answer 13

Pompe

Glycogen Storage Disorder Type II

Question 14

X-linked recessive disorder causing a deficiency of
α-Galactosidase.
This causes a buildup of globoside.
May manifest as a skin rash termed “BATHING- TRUNK distribution.”

Answer 14

Fabrys

Question 15

Autosomal recessive disorder causing a deficiency in MANNOSE-6-P markers, which is required for trafficking enzymes to lysosomes.
This causes serum lysosomal enzymes.

Answer 15

I-cell disease

Question 16

Deficiency in sphingomyelinase. This causes a buildup of sphingomyelin in neuronal tissue. Macrophages develop a “FOAMY CELL” appearance due to lipid accumulation.

Answer 16

Neiman Pick

Type A (severe infantile form)
Type B (later in childhood)

Question 17

Ingestion of an unripe ackee fruit, which contains hypoglycin A.

Answer 17

Jamaican vomiting sickness

Question 18

Hypoglycemia and hypoketonemia with fasting.

Flux of ω-oxidation indicated by DICARBOXYLIC ACIDS in urine.

Answer 18

MCAD deficiency

Question 19

Causes muscle weakness and lipid deposits in skeletal muscle. With prolonged exercise causes myoglobinuria and elevated serum CK.

Answer 19

CPT II deficiency

Question 20

Defective peroxisomal biogenesis. Very long chain fatty acids fail to be oxidized in the peroxisomes.

Answer 20

Zellweger

Question 21

Deficiency of peroxisomal phytanyl CoA α- hydroxylase, which is an enzyme of α-oxidation.
This causes phytanate to accumulate.

Answer 21

Refsum

Question 22

Autosomal recessive genetic disorder causing a defect in cholesterol synthesis by a partial deficiency in 7-dehydrocholesterol reductase. This enzyme creates the double bond in ring B.

Answer 22

SMITH-LEMLI-OPITZ SYNDROME

Question 23

high cortisol concentration and low ACTH concentration. Glucocorticoid excess induces protein loss and a characteristic fat distribution around the face and neck.
moon face and BUFFALO HUMP

Answer 23

Cushings

Question 24

Autoimmune disorder affecting the adrenal cortex. This causes a reduction in aldosterone and cortisol levels and an increase in ACTH levels.

Answer 24

Addisons

Question 25

There is also an accumulation of the sex hormones and deoxycorticosterone, leading to fluid retention. Hypertension, masculinization, and virilization

Answer 25

11-Β-HYDROXYLASE DEFICIENCY

Question 26

inhibition of pregnenolone to progesterone in steroid hormone synthesis. This prevents the formation of mineralcorticoids (aldosterone), glucocorticoids (cortisol), and the sex hormones.

Answer 26

3-Β-HYDROXYSTEROID | DEHYDROGENASE DEFICIENCY

Question 27

CAH that causes an accumulation of aldosterone and therefore induces hypertension and female-like external genitalia regardless of gender genotype. unable to convert progesterone to 17-a- hydroxyprogesterone

Answer 27

17-Α-HYDROXYLASE DEFICIENCY

Question 28

absence (classic form) or deficiency (non-classic form) of aldosterone and cortisol. There is also an accumulation of the sex hormones. Masculinization of external genitalia regardless of gender and early virilization in males. unable to convert progesterone to 11-Deoxycortisosterone

Answer 28

21-Α-HYDROXYLASE DEFICIENCY

Question 29

Defect in ABCA1 cholesterol transporter, causing very low HDL. This is due to a lack of free cholesterol available to fill HDL leading to early degradation of apo A-1. Presentation: ORANGE TONSILS, hepatomegaly, and splenomegaly.

Answer 29

Tangiers

Question 30

Defect in microsomal TAG transfer protein (MTP), causing little to no VLDL or chylomicrons.

Answer 30

ABETALIPOPROTEINEMIA

Question 31

High levels of chylomicrons due to a genetic deficiency of lipoprotein lipase (LPL) or apo C-II. eruptive SKIN XANTHOMAS

Answer 31

TYPE I HYPERTRIACYLGLYCEROLEMIA

Question 32

High LDL and high VLDL due to defected LDL receptors and/or overproduction of apo B-100 or VLDL.

Answer 32

TYPE II B HYPERCHOLESTEROLEMIA | Aka: Familial Combined Hyperlipidemia (FCH)

Question 33

Autosomal dominant deficiency of LDL receptors. This causes high LDL and normal VLDL. TENDON XANTHOMAS

Answer 33

TYPE II A HYPERCHOLESTEROLEMIA | Aka: Familial Hypercholesterolemia (FH)

Question 34

High IDL and high chylomicron remnants. Due to homozygotic genotype for apo E-2, causing less uptake of lipoprotein remnants into the liver. PALMAR XANTHOMAS

Answer 34

TYPE III HYPERCHOLESTEROLEMIA | Aka: Familial Dysbetalipoproteinemia; broad beta disease.

Question 35

High VLDL due to lipoprotein lipase (LPL) deficiency, causing overproduction of VLDL.

Answer 35

TYPE IV HYPERTRIACYLGLYCEROLEMIA

Question 36

Autosomal recessive genetic disorder causing the inability to break down phenylalanine. low IQ, seizures, MOUSEY odor of the urine, and lack of melanin leading to decreased pigmentation.

Answer 36

``` PKU PKU I (Classic PKU) is a defect in phenylalanine hydroxylase (PAH). PKU II (Malignant PKU or tetrahydrobiopterin deficiency) is a defect in dihydrobiopterin synthesis or reductase. ```

Question 37

Deficiency in Homogentisic acid oxidase, causing accumulation of Homogentisic acid. Urine becomes DARK with time, connective tissues and cartilage becomes discolored, and severe arthritis.

Answer 37

ALKAPTONURIA

Question 38

Accumulation of fumaryl acetoacetate, leading to liver and kidney damage. Renal failure, liver failure, and CABBAGE like odor of the urine.

Answer 38

TYROSINEMIA TYPE I

Question 39

Defect in branched chain α-keto acid dehydrogenase causing an accumulation of branched chain keto acids.

Answer 39

MAPLE SYRUP URINE DISEASE - MSUD

Question 40

ECTOPIA LENTIS, skeletal abnormalities, mental retardation, atheromas, osteoporosis, and fibrosis & calcification of atherosclerotic plaques.

Answer 40

HOMOCYSTINURIA

Question 41

Genetic deficiency of cystine transporter causing tubular reabsorption of cystine, ornithine, arginine, and/or lysine. These amino acids accumulate into cystine stones in the renal tubules or renal tract.

Answer 41

CYSTINURIA

Question 42

Genetic deficiency of the transport of neutral amino acids, such as tryptophan, causing decreased absorption and increased excretion of these amino acids. symptoms include diarrhea, dermatitis, dementia, and death.

Answer 42

HARTNUP’S DISEASE

Question 43

Deficiency of dopamine levels due to loss of dopamine producing cells of the basal ganglia. Cause of cell death is unknown.

Answer 43

PARKINSON’S DISEASE

Question 44

Adrenal gland tumor causing overproduction of catecholamines. Presentation: Intermittent headaches, palpitations, tachycardia, anxiety, panic attacks, excessive sweating, and/or hypertension.

Answer 44

PHEOCHROMOCYTOMA

Question 45

Overproduction of serotonin due to tumor of the APUD cells in the GIT. Increased 5-HIAA (serotonin metabolite) in the urine.

Answer 45

CARCINOID SYNDROME

Question 46

Disorder of the urea cycle with | Deficiency of Carbamoyl phosphate synthetase I (CPS I)

Answer 46

HYPERAMMONEMIA TYPE I

Question 47

Deficiency of tyrosinase, which prevents or disrupts the conversion of tyrosine to melanin.

Answer 47

ALBINISM

Question 48

Disorder of the urea cycle. X-linked. Deficiency: Ornithine transcarbamoylase (OTC) Presentation: Hyperammonemia, elevated serum & urine orotic acid.

Answer 48

HYPERAMMONEMIA TYPE II

Question 49

Deficiency: Argininosuccinate synthetase Presentation: Hyperammonemia, elevated serum citrulline, and citrulline in urine.

Answer 49

CLASSIC CITRULLINEMIA

Question 50

Hyperammoniemia from a non hereditary source. Etiology: Liver diseases that induce cirrhosis cause a porto-systemic shunt. This allows nitrogen absorbed by the intestines to flow freely throughout the body.

Answer 50

ACQUIRED HYPERAMMONEMIA

Question 51

Hyperammonemia, elevated serum and CSF argininosuccinate, elevated serum citrulline, argininosuccinate in urine.

Answer 51

ARGININOSUCCINIC ACIDURIA | Deficiency: Argininosuccinate lyase

Question 52

Hyperammonemia, elevated | serum arginine, neurological deficits.

Answer 52

HYPERARGININEMIA

Question 53

Malfunction of purine salvaging due to an X-linked deficiency of hypoxanthine-guanine phosphoribosyltransferase (HGPRT). Mental retardation, involuntary movements, ORANGE CRYSTALS in diaper (uric acid in urine), gout, and SELF-MUTILATION.

Answer 53

LESCH-NYHAN SYNDROME

Question 54

Failure of adenosine to be degraded to inosine, causing an accumulation of dATP, which is an inhibitor of ribonucleotide reductase/DNA synthesis. This leads to T-cell and B-cell dysfunction.

Answer 54

SEVERE COMBINED IMMUNODEFICIENCY Deficiency: Adenosine Deaminase (ADA)

Question 55

Deficiency of uric acid excretion, allowing the uric acid to be deposited in joints as sodium urate crystals.

Answer 55

GOUT

Question 56

Deficiency: UMP Synthase Etiology: Can be genetic or acquired via cancer treatment with pyrimidine analogs.

Answer 56

OROTIC ACIDURIA

Question 57

Autosomal dominant genetic defect of HMB synthase (porphobilinogen deaminase). Urine will become dark purple after exposure to air and light over 24 hours. No photosensitivity. Administration of barbiturates may kill patient.

Answer 57

ACUTE INTERMITTENT PORPHYRIA

Question 58

Cutaneous erosion & bullous lesions lead to scarring, pigment alteration, and development of small white papules. Urine become red due to uroporphyrin III. Deficiency: Uroporphyrinogen II decarboxylase. Photosensitivity.

Answer 58

PORPHYRIA CUTANEA TARDA

Question 59

interacts with the zinc cofactors in ALA dehydratase and ferrochelatase, effectively inhibiting these reactions. This will cause a buildup of ALA and protoporphyrin IX, which is excreted in urine.

Answer 59

LEAD TOXICITY

Question 60

Autosomal recessive genetic defect of Uroporphyrinogen III synthase. Presentation: Photosensitivity, damaged skin, blisters, poor wound healing, ulcers, infections, hypertrichosis, discolored teeth, and/or hairy front & arms. Elevated HMB.

Answer 60

CONGENITAL ERYTHROPOIETIC | PORPHYRIA

Question 61

Low activity of UDP glucuronyl transferase, Elevated unconjugated bilirubin, which may pass through the blood-brain barrier and deposit on the basal ganglia

Answer 61

Kernicterus.

Question 62

UDP glucuronyl transferase, with almost a complete deficiency.

Answer 62

CRIGLER-NAJJAR SYNDROME I

Question 63

Inherited hyperbilirubinemia. | Deficiency: UDP glucuronyl transferase, with partial deficiency (10-20% of normal activity)

Answer 63

CRIGLER-NAJJAR SYNDROME II

Question 64

UDP glucuronyl transferase, with partial deficiency (50% of normal activity). Presentation: Jaundice with trigger, typically infection, stress, or starvation.

Answer 64

GILBERT’S SYNDROME

Question 65

Deficiency: ABC transporter for conjugated bilirubin from hepatocyte to biliary canaliculus. Presentation: Jaundice & elevated serum conjugated bilirubin.

Answer 65

DUBIN-JOHNSON SYNDROME

Question 66

X-linked genetic disorder affecting the intrinsic clotting pathway. Type is determined by the deficient factor: increased APTT

Answer 66

Hemophilia A – Factor VIII | Hemophilia B – Factor IX

Question 67

Inherited (dominant or recessive) defect that prevents proper binding of the platelet to collagen. Increased bleeding time, Increased APTT

Answer 67

VON WILLEBRAND DISEASE

Question 68

Autosomal recessive deficiency of GpIB, preventing Von Willebrand factor from connecting platelets to collagen and therefore inhibits proper clotting. Increased bleeding time

Answer 68

BERNARD-SOULIER SYNDROME

Question 69

Coagulation bleeding disorder due to a deficiency of GpIIb/IIIa. Etiology: Deficiency of GpIIb/IIIa prevents clots from binding fibrinogen. Increased bleeding time

Answer 69

Thrombasthenia of Glanzman & Naegeli

Question 70

Point mutation in β-globin chain of hemoglobin. This causes hemoglobin to form long filaments, These RBCs clog capillaries causing ischemia, and are degraded early causing anemia and iron loss.

Answer 70

SICKLE CELL ANEMIA

Question 71

Night blindness, xerophthalmia, Bitot’s spots, keratomalacia, less fertility, slowed growth, and/or weakened immune system.

Answer 71

RETINOL (A) DEFICIENCY

Question 72

Cheilosis, glossitis, and fascial | dermatitis.

Answer 72

RIBOFLAVIN (B2) DEFICIENCY

Question 73

Confusion, ataxia, amnesia, and OPHTHALOMOPLEGIA

Answer 73

THIAMINE DEFICIENCY | Wernicke-Korsakoff is common in chronic alcoholics. Beriberi is from insufficient intake in diet.

Question 74

Corn based diet. Pellagra, dermatitis, diarrhea, dementia, and death.

Answer 74

NIACIN (B3) DEFICIENCY

Question 75

Commonly due to TB treatment using isoniazid. | Presentation: Microcytic anemia, peripheral neuropathy, cardiovascular disease, and/or seizures.

Answer 75

PYRIDOXINE (B6) DEFICIENCY

Question 76

Deficit inhibits pyruvate carboxylase, acetyl-CoA carboxylase, and propionyl-CoA carboxylase.

Answer 76

BIOTIN (B7) DEFICIENCY

Question 77

inhibits homocysteine N-methyltransferase causing an accumulation of homocysteine. Possible causes include diets without fruits & vegetables, pregnancy, drugs (methotrexate & trimethoprim), Phenytoin, oral contraceptives, alcohol, cancer, malabsorption, and/or sulfa drugs.

Answer 77

FOLATE (B9) DEFICIENCY

Question 78

Sore & bleeding gums, perifollicular hemorrhages, LOOSE TEETH, bleeding in joints, easily bruised, and/or impair wound healing. Defects in collagen synthesis.

Answer 78

SCURVY (VITAMIN C DEFICIENCY)

Question 79

Decreased intake, fat malabsorption, inadequate sun exposure, chronic renal disease, or chronic liver disease. This deficiency leads to demineralization of bones. Bow-leg, rachitic rosary, pigeon chest deformity, and frontal bossing.

Answer 79

RICKETS (VITAMIN D DEFICIENCY)

Question 80

accumulation of homocysteine and odd chain fatty acids as well as trapping of methyl-THF. Loss of THF will impair nucleotide synthesis. Presentation: Megaloblastic anemia, pernicious anemia, homocystinuria, elevated serum homocysteine, damaged blood vessels, thrombosis, and/or permanent neurological damage.

Answer 80

COBALAMIN (B12) DEFICIENCY

Question 81

Hemolytic anemia, reduced tendon reflex, and gait problems.

Answer 81

VITAMIN E DEFICIENCY

Question 82

Commonly seen in patients with fat malabsorption and prolonged use of broad spectrum antibiotics. Presentation: Bleeding disorder with HEMATURIA , melena, ecchymoses, and bleeding from the gums.

Answer 82

VITAMIN K DEFICIENCY

Question 83

(hypochromic microcytic), fatigue, pallor, weakness, brittle nails, and/or pica.

Answer 83

IRON DEFICIENCY

Question 84

Autosomal recessive defect causing excessive absorption, leading to iron accumulation in parenchymal organs (liver & pancreas). Damage occurs due to free radicals created by iron. Presentation: Liver damage, diabetes, cardiac dysfunction, synovitis, and BRONZING of the skin.

Answer 84

HEREDITARY HEMOCHROMATOSIS

Question 85

Goiter and hypothyroidism.

Answer 85

IODINE DEFICIENCY

Question 86

Hair is twisty & gray and all other symptoms associated with copper deficiency.

Answer 86

MENKE’S SYNDROME

Question 87

Autosomal recessive deficit of ceruloplasmin, copper transporting ATPase in liver, or about 30 other found defects. Presentation: Neurological symptoms, liver failure, renal failure, hemolysis, and/or Keyser- Fleischer rings.

Answer 87

WILSONS

Question 88

autoimmune destruction of β-cells of the pancreas, causing an absence of insulin. lipolysis to acts in an unregulated manner (no insulin) and be in a state of constant β-oxidation. This causes increased ketone production and subsequently ketoacidosis (form of metabolic acidosis)

Answer 88

TYPE 1 DIABETES

Question 89

Insulin receptor insensitivity. Insulin no longer works on the receptor.

Answer 89

TYPE II DIABETES

Question 90

Insulin-induced (over medication), insulinoma (hyperinsulinemia), alcohol intoxication, or exaggerated insulin release. Presentation: Anxiety, palpitation, tremor, sweating, headache, confusion, slurred speech, seizures, coma, and/or death.

Answer 90

HYPOGLYCEMIA

Question 91

A collection of atherosclerotic cardiovascular disease risk factors. Presentation: Central obesity, insulin resistance, hypertension, dyslipidemia, chronic inflammation, and/or pro-coagulation. Notes: Typically precedes Type II Diabetes.

Answer 91

METABOLIC SYNDROME