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Biochemistry > Biochemistry Diseases > Flashcards

Biochemistry Diseases Flashcards

1
Q

Von Gierke’s disease

A

5 month old patient comes in with severe hypoglycemia, massive liver enlargement, failure to thrive, ketosis, hyperuricemia and increased concentrations of ketone bodies, lactic acid, pyruvate
Glycogen: normal structure, increased amount in the liver

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2
Q

Glucose 6 phosphatase deficiency

A

Von Gierke’s disease enzyme deficiency

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3
Q

Pompe’s disease

A

cardio-respiratory failure, death before age 2

Glycogen: normal structure; massive increase in the amount of glycogen in the heart

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4
Q

Alpha-1,4-glucosidase deficiency

A

Pompe’s disease enzyme deficiency

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5
Q

Cori’s disease

A

mild hypoglycemia, liver enlargement, buildup of keto-acids, lactic acid and pyruvate
Glycogen: increased amount with short outer branches

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6
Q

Limit dextrans

A

glycogen with small outer branches

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7
Q

Debranching enzyme deficiency

A

Cori’s disease enzyme deficiency

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8
Q

Andersen’s disease

A

Progressive liver cirrhosis, liver failure

Glycogen: normal amount with very long outer branches

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9
Q

Branching enzyme deficiency

A

Andersen’s disease enzyme deficiency

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10
Q

McArdle’s disease

A

Patient presents with limited ability to exercise, have painful muscle cramps and no increase in lactic acid levels after a stress test
Glycogen: moderately increased amount with normal structure

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11
Q

Muscle glycogen phosphorylase deficiency

A

McArdle’s disease enzyme deficiency

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12
Q

Her’s disease

A

mild hypoglycemia and hepatomegaly, adaptable

Glycogen: increased amount in the liver with normal structure

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13
Q

Hepatic glycogen phosphorylase deficiency

A

Her’s disease enzyme deficiency

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14
Q

Muscle Phosphofructokinase deficiency

A

limited ability to exercise, painful cramps

Glycogen: normal but reduced ability to utilize it

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15
Q

Essential fructosuria

A

Fructose in the urine

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16
Q

Fructokinase deficiency

A

Essential fructosuria

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17
Q

Hereditary Fructose Intolerance

A

~5 month old Infant presents with severe vomiting, poor feeding, jaundice, failure to thrive, later develop cataracts and cirrhosis

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18
Q

Aldolase B deficiency

A

Hereditary fructose intolerance, accumulation of fructose-1-phosphate

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19
Q

Excessive fructose intake

A

See obesity due to no regulation of glycolysis leading to increased LDL which leads to increased fat in the body

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20
Q

Classic Galactosemia

A

Neonates present with vomiting and diarrhea following milk ingestion, also see failure to thrive and mental retardation, cirrhosis and cataracts develop later, deficiency in Galactose-1-phophate uridyl transferase OR galactokinase

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21
Q

Galactose-1-Phosphate Uridyl Transferase Deficiency

A

Classic Galactosemia enzyme deficiency

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22
Q

Galactosemia triad

A

Mental retardation, cirrhosis and cataracts

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23
Q

Sorbitol Dehydrogenase deficiency

A

Known non-diabetic patient presents with cataracts in the lens, retinopathy (bilateral) and neuropathy

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24
Q

Glucose-6-Dehydrogenase deficiency Type A

A

African patient presents with self-limiting episodes of hemolytic anemia after exposure to oxidant drugs, specifically antimalarials, sulfonamides, nitrofurantoins), infections (hepatitis, pneumonia, typhoid fever)

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25
Q

Glucose-6-Dehydrogenase deficiency

A

Middle eastern patient presents with hemolytic anemia after exposure to oxidant drugs (antimalarials, sulfonamides, nitrofurantoins) infections (hepatitis, pneumonia and typhoid fever) or fava bean ingestion

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26
Q

Hurler’s disease

A

Patient presents with corneal clouding, dystosis multiplex, organomegaly, heart disease, dwarfism, mental retardation, genetic testing shows it is an autosomal recessive disorder and you suspect early mortality for your patient

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27
Q

Hunter’s disease

A

Patient presents with dystosis multiplex, organomegaly, heart disease, dwarfism, mental retardation, genetic testing shows it is an X-linked recessive disorder and you suspect early mortality for your patient

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28
Q

I-cell disease

A

Patient prevents with severe psychomotor retardation, skeletal abnormalities, coarse facial features and show painful and restricted join movement, also likely have early mortality

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29
Q

GlcNAc Phosphotransferase Deficiency

A

I-Cell disease enzyme deficiency –> lysosomes appear in fibroblasts as inclusion bodies

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30
Q

Chronic Pancreatitis

A

Patient presents with steatorrhea, testing shows they cannot break down lipids for uptake into their cells, see decreased levels of lipase

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31
Q

Cirrhosis

A

Patient presents with steatorrhea, testing shows an inability to form micelles, excrete all taken in lipids due to decreased amount of intraduodenal bile acids

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32
Q

Celiac sprue

A

Patient presents with steatorrhea due to an inability to uptake lipids and reesterify them for export to the rest of the body due to mucosal dysfunction

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33
Q

Abetalipoproteinemia

A

Patient presents with steatorrhea, testing shows a lack of betalipoproteins and an inability to form chylomicrons

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34
Q

Intestinal lymphangiectasia

A

Patient presents with steatorrhea, testing shows a abnormal lymphatics

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35
Q

Carnitine Deficiency

A

patient presents with mild muscle cramps that can be severe, you suspect they could lead to death because the patient cannot perform beta-oxidation

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36
Q

Carnitinepalmitoyltransferase Deficiency Type I

A

patient prevents with severe hypoglycemia and coma, you suspect they will die soon and further testing shows that they have reduced fatty acid oxidation and ketogenesis

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37
Q

Carnitinepalmitoyltransferase deficiency Type II

A

patient presents with muscle pain, myglobinuria after exercise, and severe weakness, you suspect rhabdomylosis also and testing shows reduced fatty acid oxidation and ketogenesis in muscle cells

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38
Q

Acyl-CoA dehydrogenase deficiency

A

Patient presents with an intolerance to fast, recurrenty hypoglycemic coma, further testing shows MC/VLC/LC/SC-dicarboxylicaciduria, low plasma and tissue carnitine and you suspect impaired ketogenesis and impaired beta-oxidation

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39
Q

Refsum Disease

A

Patient presents with peripheral neuropathy, cerebellar ataxia, retinitis pigmentosa and complain of skin changes (bone changes), you suspect it is due to accumulation of phytanic acid due to an autosomal recessive disorder

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40
Q

PhytanoylCoA hydroxylase deficiency

A

Refsum disease enzyme deficiency

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41
Q

Paroxysmal Nocturnal Hemoglobinuria

A

Patient presents with venous thrombosis, hemolytic anemia and a history of passing red urine in the morning that gets lighter through the day, you also suspect deficient hematopoesis

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42
Q

Phophatidylinositolglycan A mutation

A

Paroxysmal Nocturnal hemoglobinuria cause, see failed complement activation prevention

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43
Q

Niemann Pick disease

A

Infant approx 6 months old presents with a protuberant abdomen (you suspect hepatosplenomegaly), progressive failure to thrive, vomiting, fever and generalized lymphadenopathy, parent also reports progressive deterioration of psychomotor function, further testing shows foaminess in the cytoplasm of CNS cells

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44
Q

Sphingomyelinase Deficiency

A

Niemann Pick disease – accumulation of sphingomyelin in cells

45
Q

Krabbe Disease

A

Accumulation of Galactocerebrosides

46
Q

Gaucher’s disease

A

Patient presents with pain, fatigue, jaundice, bone damage, anemia and you suspect death is imminent, further examination shows hepatosplenomegaly, osteoporosis and marrow analysis shows cells replaced with fibrillary cells, you suspect a autosomal recessive disorder

47
Q

Gaucher’s cells

A

phagocytic cells have a cytoplasm that is fibrillary like a crumpled tissue paper

48
Q

Glucocerebrosidase deficiency

A

Gaucher’s disease –> accumulation of glucocerebroside (liver, spleen, bone marrow)

49
Q

Sulfatidelipidosis

A

Accumulation of sulfatides, AKA: metachromaticleukodystrophy

50
Q

Fabry’s disease

A

Accumulation of globotrioscycleramide (primarily in the kidneys)

51
Q

Tay-Sach’s disease

A

6-month old infant presents with progressive mental and motor deterioration, eventually develop muscular flaccidity, blindness and increasing dementia, you suspect they have a genetic mutation on chromosome 15 and will reach a vegetative state by 1-2 years and likely die by age 3, further examination confirms your diagnosis as you see a cherry-red spot on the retina

52
Q

Cholelithiasis

A

Decreased bile acids cause increased biliary cholesterol excretion and a build up of cholesterol in the gall bladder

53
Q

21-hydroxylase deficiency

A

female patient presents with salt wasting, virilization and ambiguous genitalia, you suspect congenital adrenal hyperplasia, further testing shows a lack of aldosterone and cortisol and increased testosterone levels

54
Q

11-beta hydroxylase deficiency

A

Patient presents with hypertension, physical examination shows virilization, further testing shows increased levels of 11-deoxycortisol, and excessive androgen production

55
Q

17-alpha hydroxylase deficiency

A

Patient presents with hypertension, further examination shows hypokalemia and excessive levels of mineralocorticoids and a failure of pubertal development in genetic females, genetic males present with female external genitalia and intra-abdominal testes

56
Q

3-beta hydroxyl steroid dehydrogenase deficiency

A

Patient presents with adrenal failure in early infancy, further testing shows defective production of steroids

57
Q

PEM Kwashiorkor

A

Patient presents muscle wasting, edema and a distended abdomen, have a history of a low protein/absent protein diet

58
Q

Deficiency of dietary protein

A

PEM Kwashiorkor disease

decreased albumin levels lead to decreased osmotic pressure

59
Q

Chronic Granulomatus Disease

A

NADPH oxidase deficiency, suffer from repeated infections (commonly from Staphylococcus Aureus)

60
Q

Linoleic acid deficiency

A

Results in lack of arachidonic acid, which leads to poor growth, poor wound healing and dermatitis

61
Q

Hyperlipoproteinemia Type I: Lipoprotein Lipase deficiency

A

Patient presents with pancreatitis and high circulating levels of chylomicrons

62
Q

Type II Hyperlipoproteinemia: Familial Hypercholesterolemia

A

Patient presents with symptoms of a MI and blood work shows high LDL levels, you suspect a receptor is missing

63
Q

Type III Hyperlipoproteinemia: Familial Dysbetalipoproteinemia

A

Patient presents with symptoms of MI, blood work shows high LDL levels and no circulating ApoE is found

64
Q

Folate Deficiency

A

See increased levels if FiGlu in the urine

65
Q

Histidinemia

A

You do a patients regular check up blood work and notice high levels of histidine and very low levels of urocanic acid, you suspect an amino acid metabolism disorder

66
Q

Propionyl CoA carboxylase deficiency

A

Patient presents with episodic vomitting, lethargy, ketosis, developmental retardation, intolerance to protein and hyperglycinemia and hyperglycinuria (AKA: Ketotic Hyperglycinemia)

67
Q

Methyl malonic aciduria

A

Patient presents with developmental retardation and chronic metabolic acidosis, you suspect an amino acid metabolism disorder and treat with B12 supplements but there is no improvement in the symptoms

68
Q

Classic Maple Syrup Urine Disease

A

A 12 hour old infant is brought into the ER with poor feeding and irritability and you notice a maple syrup odor, further blood work shows ketonuria

69
Q

Maple Syrup Urine Disease Enzyme Deficiency

A

Branched-Chain ketoacid dehydrogenase

70
Q

Intermediate Maple Syrup Urine Disease

A

10 year old comes to your office and the mother complains of a maple-syrup like odor, tells you that the child has not been eating well, is irritable and lethargic, you suspect an amino acid metabolism disorder with residual enzyme activity

71
Q

Intermittent Maple Syrup Urine Disease

A

An otherwise normal teenager has been coming to your office over the last few months with complaints of a maple-syrup odor and anorexia, further testing also shows ketonuria

72
Q

Thiamine Responsive Maple Syrup Urine Disease

A

10 year old comes to your office and the mother complains of a maple-syrup like odor, tells you that the child has not been eating well, is irritable and lethargic, you suspect an amino acid metabolism disorder with residual enzyme activity, so you treat with thiamine and notice improved leucine tolerance

73
Q

Phenylketonuria

A

Patient presents with a Mousy odor, skin
conditions, decreased skin and hair pigmentation, Severe mental retardation,
microcephaly,epilepsy and behavioural problems, urine analysis shows high levels of phenylalanine ketones

74
Q

Maternal Phenylketonuria

A

Infant presents with congenital heart disease, intrauterine and post natal growth retardation microcephaly and mental retardation in the child, you suspect that the mother has a disorder that caused these symptoms

75
Q

Hartnup Disease

A

Patient presents with photosensitivity rash, ataxia and neuropsychological problems, (diarrhea, dermatitis, dementia) blood work shows increased tryptophan levels, you suspect it is a defect in tryptophan uptake

76
Q

Cystinuria

A

Patient comes in complaining of flank pain, examination shows kidney stones, pathology report shows they contain sulfur

77
Q

Ornithine TransCarbamoylase Deficiency

A

failure to thrive, comatose baby, blood picture shows normoglycemia, blood pH is alkaline, you suspect an X-linked dominant disorder and treat with nitrogen scavengers

78
Q

Homocystinuria

A

Lack of cystathione synthase, patient presents with arachnodactyly, osteoporosis and ectopic lentis, also see developmental delay

79
Q

Cystathioninuria

A

benign condition caused by deficiency in cystathionine lyase

80
Q

Porphyrias/Acute intermittent

“Dracula”

“Mad king George”

A

One of the ONLY disorders that are Autosomal Dominant EXCEPT congenital=autosomal recessive

Enzyme def- urophyrinogen 1 synthase or A block anywhere before urophyrinogen

Symptoms- abdominal pain & neuropsychiatric symptoms & red teeth

Other symptoms associated- photosensitive (build up in skin/mucous membrane)–> & anemia

Avoid drugs that induce cytochrome P450 which will increase heme synthesis

Treatment–> IV Hemin inhibits Ala synthase from cytosol to mitochondria

81
Q

Alkaptonuria

A

30 yr old patient presents with degenerative arthritis, characterized by discolouration of the sclera and ear cartilage, blood work show deficiency in Homogenetisate oxidase and an accumulation of tyrosine

82
Q

Hyperbilirubinemia/Prehepatic

A

Hemolytic jaundice- excess production of bilirubin

Due to hemolysis & Liver is NOT damaged

Signs to look for- high concentrations of unconjugated bilirubin in blood

Not water soluble so won’t see it in Urine (minor) or feces (major pathway - urobilin)

83
Q

Hyperbilirubinemia/intrahepatic

A

Symptoms- impaired uptake, conjugation and secretion of bilirubin

Reflects a generalized liver dysfunction BOTH unconjugated (blood) & conjugated (feces,urine) bilirubin –> due to blockage through the intestines see more discolored urine.

Associated- with other abnormalities in biochemical markers of liver function (high levels of AST & ALT-major precursor to diagnosis)

Damage to liver–> HEP A/B/C viral, physical trauma–>loss of appetite/fever

84
Q

Hyperbilirubinemia/post hepatic

A

Caused by- obstruction to bilary tree aka gallstones or tumors

Signs- bilirubin in plasma is conjugated & bile acids accumulate (ALP-alkaline phosphotase BIG increase)

Symptoms- pale colored stools (absence of urobilin) and dark urine (increased conj. bilirubin)
NO bilirubin is going through intestine

85
Q

Neonatal jaundice

A

Due to immaturity of enzymes (UDP glucuronyl transferase) in bilirubin conjugation (urine/feces form) due to premature birth

Physiologic- resolves in 10 days and high levels can cross BBB and cause Kernicterus (mental retardation)

Bilirubin levels get to high- treatment: phototherapy(helps conjugate bilirubin)–> converts bilirubin to water soluble form=nontoxic form, phenobarbital(induces P450 microsomal-increase synthesis of Heme), blood transfusion.

86
Q

Crigler-Najjar syndrome

A

Autosomal recessive

Deficiency- bilirubin UDP glucuronyl transferase (conjugated bilirubin)

People affected- Amish

Type 1- complete absence in bilirubin conjugation

Type 2- reduction in bilirubin conjugation

87
Q

Properties Associated with Disorders of Purine Metab.

A

Result of abnormal catabolism (breakdown of molecules into smaller units/release of energy) of purines

Manifestations arise from the insolubility of Uris acid

Excess Uric acid–>hyperuricemia or gout

Precipitation of sodium irate crystals in synovial fluid–>severe inflammation and arthritis

88
Q

Gout

A

2 processes

  1. Overproduction of Uric acid
  2. Under excretion of Uric acid

Results from metabolic abnormality–>hyperuricemia –> sodium urate crystals

Symptoms- attacks of gouty arthritis or chronic arthritis

Primary gout- most common, inborn error, enzyme is defective

Secondary gout- less common, associated with renal disease, increased nucleic acid turnover, associated with inborn errors in metabolism of nucleic acid

TREATMENT- NSAIDS/corticosteroids anti-inflammatory (high doses), colchicine, Uricosuric agents increase Uric acid at kidney (probenecid, allopurinol–>inhibitor of xanthine oxidase, sulfinpyrazone)

89
Q

Lesch Nyhan syndrome

A

Total Deficiency of HRPT (hypoxia thine guanine phosphoribosyl transferase) salvage pathway in purines NOT working

X linked recessive

Symptoms- hyperuricemia (renal failure, gouty arthritis and tophi), neurological disability (dystonia, spasticity & hyperreflexia), behavioral problems (cognitive dysfunction, aggressive, and self mutilation)

“Orange sand” in diapers–> Uric acid cyrstalluria causes micro hemorrhages in urethra

90
Q

Syndrome x or Metabolic syndrome

A

Diagnosed with 3 or more factors below-

Android fat
Insulin resistance
Hypertroglyceridemia
Low serum HDL and high LDL
hypertension and increased risk for coronary artery disease
91
Q

PEM (protein energy malnutrition)

A

Is a board term for a range of clinical syndromes

Inadequate dietary intake of protein and calories to meet the body’s needs

Commonly found in children of the 3rd world

Marasmus and Kwashiorkor can present separately or together

92
Q

Marasmus

A

Caused by: severe reduction in caloric intake

Symptoms: 60% reduction In body weight, children suffer from growth retardation, and loss of muscle/subcutaneous fat–>MOST seen in extremities (emaciated), Head appears too large for body, anemia & associated multivitamin deficiencies seen

93
Q

Parkinsonism

A

Degeneration of substansia niagra

Loss of pigmented dopamine secreting cells

L-dopa used to treat it because it is made into dopamine

MAO inhibitors are used to help decrease breakdown of catecholemines –> accumulate in presynaptic space = ++reuptake

94
Q

Adenosine Deaminase def.

A

Severe combined immunodeficiency

Down production of DNA and production of T lymphocytes (cell mediated directly & humeral indirectly B-cell)–> mostly effects Thymus

Bone marrow transplant or gene therapy

95
Q

Vit. A deficiency

A

Onset: undernutrition/def. in absorption of fats

Symptoms: Night blindness, dry eye, bitot spots (opaque plaques lateral eye)

Total blindness due rupture of cornea (keratomalacia cornea soft) irreversible damage.

Upper resp/urinary passages–>secondary pulmonary infect. & renal/urinary stones

Total immune def.

96
Q

Vit. A toxicity

A

Acute hypervitaminosis–>headache, vomiting (similar symptoms to brain tumor)

Chronic toxicity–>weight loss, nausea, dryness of mucosa

Retinoids should be avoided in preg. due to congenital malformations.

97
Q

Vit. D deficiency - Rickets

A

Present in growing children-
Infants show craniotabes (excess of osteoid-unminerlized bone matrix)- exhibit Frontal bossing/squared appearance to head.

Deformity of chest-rosary or bumps
Bowing of long bones

In adults- regular bone growth not mineralized correctly–>excess osteoid (osteomalacia) leads to weak bones.

98
Q

Hypovitaminosis E

A

PRIMARILY due to fat malabsorption can be seen in patients with Cholestasis, cystic fibrorsis

Main symptoms seen in Small intestine

99
Q

Vit. K deficiency

A

Fat malabsorption–>Bilary tract disease
After use of antibiotics which kills intestinal bacteria

neonatal period–>liver reserves are small

Bleeding diathesis- intracranial hemorrhage, bleeding occurs everywhere, Treated with Vit.K

In adults- hematomas, hematuria, bleeding from the gums

Toxicity- causes hemolytic anemia/jaundice

100
Q

Hereditary Nonpolyposis Colon Cancer

A

Autosomal Dominant

Defect in Mismatch repair pathway

Early adulthood onset without appearance of adenomatous polyps, heterozygous males 90% risk, females 70% risk

Affected cells are unable to remove small loops of unpaired DNA

101
Q

Xeroderma Pigmentosa

A

Autosomal Recessive

Defect in nucleotide excision repair pathway

See sensitivity to sunlight (UV) with multiple skin cancers, early death (risk of skin cancer increased 1000-2000 fold)

See high levels of pyrimidine dimers in DNA

102
Q

Transition mutation

A

Purine substitutes for a purine or pyrimidine substitutes for a pyrimidine

103
Q

Transversion mutation

A

A pyrimidine substitutes for a purine, or a purine substitutes for a pyrimidine

104
Q

Silent mutation

A

Undetectable change in the 3rd nucleotide of a code, due to the degeneracy of the genetic code

105
Q

Missense mutation

A

different amino acid is incorporated into the protein due to a changed codon (ex. sickle cell)

106
Q

nonsense mutation

A

Mutation causes a stop codon to be formed, see premature termination of the peptide chain

107
Q

In frame deletion/insertion

A

Nucleotides are inserted/deleted in multiples of three

108
Q

Frame shift deletion/insertion

A

A change in the reading frame due to a deletion/insertion of nucleotides into the sequence, see more severe mutations

109
Q

Diptheria

A

See addition of ADP-ribose to eEF-2, so the ribosome cannot move during translation

Biochemistry (3 decks)

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