All Post Midterm Disorders Flashcards
Seizure disorder associated with low GABA
epilepsy, treat with GABA analogs
autoimmune destruction of CNS myelin (oligodendrocytes)
Multiple sclerosis
Infection by eating infected nervous tissue or sporadic misfolding. Once ingested or misfolded, the prion (PrPsc) begins to misfold
Creutzfeldt-Jakob disease (prion disease)
Fragments of the β-amyloid precursor protein accumulate into plaques containing hyper phosphorylated tau protein.
ALZHEIMER’S
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.
Cystic Fibrosis
Sweat chloride test, genetic test (ASO), Southern blotting, and PCR.
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).
KWASHIORKOR
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.
DUCHENNE MUSCULAR DYSTROPHY
X-linked genetic disorder causing partial deficit of dystrophin
Beckers
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
Hurlers
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.
Tay-Tay
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
Hunters
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.”
Gauchers
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.
Pompe
Glycogen Storage Disorder Type II
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.”
Fabrys
Autosomal recessive disorder causing a deficiency in MANNOSE-6-P markers, which is required for trafficking enzymes to lysosomes.
This causes serum lysosomal enzymes.
I-cell disease
Deficiency in sphingomyelinase. This causes a buildup of sphingomyelin in neuronal tissue. Macrophages develop a “FOAMY CELL” appearance due to lipid accumulation.
Neiman Pick
Type A (severe infantile form) Type B (later in childhood)
Ingestion of an unripe ackee fruit, which contains hypoglycin A.
Jamaican vomiting sickness
Hypoglycemia and hypoketonemia with fasting.
Flux of ω-oxidation indicated by DICARBOXYLIC ACIDS in urine.
MCAD deficiency
Causes muscle weakness and lipid deposits in skeletal muscle. With prolonged exercise causes myoglobinuria and elevated serum CK.
CPT II deficiency
Defective peroxisomal biogenesis. Very long chain fatty acids fail to be oxidized in the peroxisomes.
Zellweger
Deficiency of peroxisomal phytanyl CoA α- hydroxylase, which is an enzyme of α-oxidation.
This causes phytanate to accumulate.
Refsum
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.
SMITH-LEMLI-OPITZ SYNDROME
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
Cushings
Autoimmune disorder affecting the adrenal cortex. This causes a reduction in aldosterone and cortisol levels and an increase in ACTH levels.
Addisons
There is also an accumulation of the sex hormones and deoxycorticosterone, leading to fluid retention.
Hypertension, masculinization, and virilization
11-Β-HYDROXYLASE DEFICIENCY
inhibition of pregnenolone to progesterone in steroid hormone synthesis. This prevents the formation of mineralcorticoids (aldosterone), glucocorticoids (cortisol), and the sex hormones.
3-Β-HYDROXYSTEROID
DEHYDROGENASE DEFICIENCY
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
17-Α-HYDROXYLASE DEFICIENCY
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
21-Α-HYDROXYLASE DEFICIENCY
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.
Tangiers
Defect in microsomal TAG transfer protein (MTP), causing little to no VLDL or chylomicrons.
ABETALIPOPROTEINEMIA
High levels of chylomicrons due to a genetic deficiency of lipoprotein lipase (LPL) or apo C-II.
eruptive SKIN XANTHOMAS
TYPE I HYPERTRIACYLGLYCEROLEMIA
High LDL and high VLDL due to defected LDL receptors and/or overproduction of apo B-100 or VLDL.
TYPE II B HYPERCHOLESTEROLEMIA
Aka: Familial Combined Hyperlipidemia (FCH)
Autosomal dominant deficiency of LDL receptors. This causes high LDL and normal VLDL.
TENDON XANTHOMAS
TYPE II A HYPERCHOLESTEROLEMIA
Aka: Familial Hypercholesterolemia (FH)
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
TYPE III HYPERCHOLESTEROLEMIA
Aka: Familial Dysbetalipoproteinemia; broad beta disease.
High VLDL due to lipoprotein lipase (LPL) deficiency, causing overproduction of VLDL.
TYPE IV HYPERTRIACYLGLYCEROLEMIA
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.
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.
Deficiency in Homogentisic acid oxidase, causing accumulation of Homogentisic acid. Urine becomes DARK with time, connective tissues and cartilage becomes discolored, and severe arthritis.
ALKAPTONURIA
Accumulation of fumaryl acetoacetate, leading to liver and kidney damage.
Renal failure, liver failure, and CABBAGE like odor of the urine.
TYROSINEMIA TYPE I
Defect in branched chain α-keto acid dehydrogenase causing an accumulation of branched chain keto acids.
MAPLE SYRUP URINE DISEASE - MSUD
ECTOPIA LENTIS, skeletal abnormalities, mental retardation, atheromas, osteoporosis, and fibrosis & calcification of atherosclerotic plaques.
HOMOCYSTINURIA
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.
CYSTINURIA
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.
HARTNUP’S DISEASE
Deficiency of dopamine levels due to loss of dopamine producing cells of the basal ganglia. Cause of cell death is unknown.
PARKINSON’S DISEASE
Adrenal gland tumor causing overproduction of catecholamines.
Presentation: Intermittent headaches, palpitations, tachycardia, anxiety, panic attacks, excessive sweating, and/or hypertension.
PHEOCHROMOCYTOMA
Overproduction of serotonin due to tumor of the APUD cells in the GIT. Increased 5-HIAA (serotonin metabolite) in the urine.
CARCINOID SYNDROME
Disorder of the urea cycle with
Deficiency of Carbamoyl phosphate synthetase I (CPS I)
HYPERAMMONEMIA TYPE I
Deficiency of tyrosinase, which prevents or disrupts the conversion of tyrosine to melanin.
ALBINISM
Disorder of the urea cycle. X-linked. Deficiency: Ornithine transcarbamoylase (OTC)
Presentation: Hyperammonemia, elevated serum & urine orotic acid.
HYPERAMMONEMIA TYPE II
Deficiency: Argininosuccinate synthetase
Presentation: Hyperammonemia, elevated serum citrulline, and citrulline in urine.
CLASSIC CITRULLINEMIA
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.
ACQUIRED HYPERAMMONEMIA
Hyperammonemia, elevated serum and CSF argininosuccinate, elevated serum citrulline, argininosuccinate in urine.
ARGININOSUCCINIC ACIDURIA
Deficiency: Argininosuccinate lyase
Hyperammonemia, elevated
serum arginine, neurological deficits.
HYPERARGININEMIA
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.
LESCH-NYHAN SYNDROME
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.
SEVERE COMBINED IMMUNODEFICIENCY
Deficiency: Adenosine Deaminase (ADA)
Deficiency of uric acid excretion, allowing the uric acid to be deposited in joints as sodium urate crystals.
GOUT
Deficiency: UMP Synthase
Etiology: Can be genetic or acquired via cancer treatment with pyrimidine analogs.
OROTIC ACIDURIA
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.
ACUTE INTERMITTENT PORPHYRIA
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.
PORPHYRIA CUTANEA TARDA
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.
LEAD TOXICITY
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.
CONGENITAL ERYTHROPOIETIC
PORPHYRIA
Low activity of UDP glucuronyl transferase, Elevated unconjugated bilirubin, which may pass through the blood-brain barrier and deposit on the basal ganglia
Kernicterus.
UDP glucuronyl transferase, with almost a complete deficiency.
CRIGLER-NAJJAR SYNDROME I
Inherited hyperbilirubinemia.
Deficiency: UDP glucuronyl transferase, with partial deficiency (10-20% of normal activity)
CRIGLER-NAJJAR SYNDROME II
UDP glucuronyl transferase, with partial deficiency (50% of normal activity).
Presentation: Jaundice with trigger, typically infection, stress, or starvation.
GILBERT’S SYNDROME
Deficiency: ABC transporter for conjugated bilirubin from hepatocyte to biliary canaliculus.
Presentation: Jaundice & elevated serum conjugated bilirubin.
DUBIN-JOHNSON SYNDROME
X-linked genetic disorder affecting the intrinsic clotting pathway. Type is determined by the deficient factor:
increased APTT
Hemophilia A – Factor VIII
Hemophilia B – Factor IX
Inherited (dominant or recessive) defect that prevents proper binding of the platelet to collagen.
Increased bleeding time, Increased APTT
VON WILLEBRAND DISEASE
Autosomal recessive deficiency of GpIB, preventing Von Willebrand factor from connecting platelets to collagen and therefore inhibits proper clotting.
Increased bleeding time
BERNARD-SOULIER SYNDROME
Coagulation bleeding disorder due to a deficiency of GpIIb/IIIa.
Etiology: Deficiency of GpIIb/IIIa prevents clots from binding fibrinogen.
Increased bleeding time
Thrombasthenia of Glanzman & Naegeli
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.
SICKLE CELL ANEMIA
Night blindness, xerophthalmia, Bitot’s spots, keratomalacia, less fertility, slowed growth, and/or weakened immune system.
RETINOL (A) DEFICIENCY
Cheilosis, glossitis, and fascial
dermatitis.
RIBOFLAVIN (B2) DEFICIENCY
Confusion, ataxia, amnesia, and OPHTHALOMOPLEGIA
THIAMINE DEFICIENCY
Wernicke-Korsakoff is common in chronic alcoholics. Beriberi is from insufficient intake in diet.
Corn based diet. Pellagra, dermatitis, diarrhea, dementia, and death.
NIACIN (B3) DEFICIENCY
Commonly due to TB treatment using isoniazid.
Presentation: Microcytic anemia, peripheral neuropathy, cardiovascular disease, and/or seizures.
PYRIDOXINE (B6) DEFICIENCY
Deficit inhibits pyruvate carboxylase, acetyl-CoA carboxylase, and propionyl-CoA carboxylase.
BIOTIN (B7) DEFICIENCY
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.
FOLATE (B9) DEFICIENCY
Sore & bleeding gums, perifollicular hemorrhages, LOOSE TEETH, bleeding in joints, easily bruised, and/or impair wound healing.
Defects in collagen synthesis.
SCURVY (VITAMIN C DEFICIENCY)
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.
RICKETS (VITAMIN D DEFICIENCY)
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.
COBALAMIN (B12) DEFICIENCY
Hemolytic anemia, reduced tendon reflex, and gait problems.
VITAMIN E DEFICIENCY
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.
VITAMIN K DEFICIENCY
(hypochromic microcytic), fatigue, pallor, weakness, brittle nails, and/or pica.
IRON DEFICIENCY
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.
HEREDITARY HEMOCHROMATOSIS
Goiter and hypothyroidism.
IODINE DEFICIENCY
Hair is twisty & gray and all other symptoms associated with copper deficiency.
MENKE’S SYNDROME
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.
WILSONS
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)
TYPE 1 DIABETES
Insulin receptor insensitivity. Insulin no longer works on the receptor.
TYPE II DIABETES
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.
HYPOGLYCEMIA
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.
METABOLIC SYNDROME
