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Clinical Chemistry Review > Disorders of Chemistry > Flashcards

Disorders of Chemistry Flashcards

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1
Q

Aminoacidopathies

A

class of inherited errors of metabolism in which there is an enzyme defect that inhibits the body’s ability to metabolize certain amino acids.

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2
Q

Phenylketonuria (PKU)- classic form

A

Absence of activity of phenylalanine hydroxyls (PAH) due to mutations in PAH gene; newborn concentrations are >1200 umol/L (can be as high as 2.4 mmol/L); other elevated metabolites include phenylpyruvic acid, phenylpyruvate (phenylketone), and phenyl lactic acid; decrease in tyrosine; detected by blood or urine measurements; urine will smell musty or mousy; infants and children exhibit mental retardation and microcephaly; managed by low phenylalanine diet; positive Guthrie test (qualitative); microfluorometric assay of blood spot; HPLC; or LC-MS (Phe/Tyr ratio determined; >1 is PKU)

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3
Q

Phenylketonuria (PKU)- mild form

A

partial PKU deficiency; PAH concentration between 600-1200 umol/L; treatment by sapropterin dihyrochloride (Kuvan) increases activity of PAH enzyme and low phenylalanine diet.

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4
Q

non-PKU mild Hyperphenylalanimeia

A

PAH concentrations between 180-600 umol/L; no accompanying accumulation of phenylketones; may be caused by cofactor deficiency (enzymes for BH4 synthesis and regeneration which will also results in deficiency of neurotransmitters from tyrosine and tryptophan (treatment entails supplements of L-DOPA and 5-OH tryptophan)

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5
Q

Tyrosinemia

A

Inborn metabolic disorder of tyrosine catabolism is characterized by excretion of tyrosine and its catabolites in urine (tyrosinuria). elevated tyrosine in blood by MS/MS; elevated succinylacetone (toxic); treatment is low protein diet and nitisinone

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6
Q

Tyrosinemia-Type I

A

most severe form; 1 in 100,000 births worldwide; caused by mutation in the FAH gene, which codes for the enzyme fumarylacetoacetate hydrodrolase (FAH), which is the last of 5 enzymes required for metabolism of tyrosine; symptoms manifest in first few months of life; failure to thrive, diarrhea, vomiting, jaundice, a cabbage-like odor, distended abdomen, swelling of legs, and increased predisposition for bleeding; untreated, patients will not live past 10 years old

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7
Q

Tyrosinemia-Type II

A

1 in 250,000 births worldwide; caused by mutation in TAT gene, which leads to a deficiency of the enzyme tyrosine aminotransferase (TAT), first of the 5 enzymes involved in tyrosine metabolism; half of patients will exhibit impaired mental development; other symptoms include photo sensitivity (photophobia), eye pain and redness, and painful skin lesions on palms and soles of feet

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8
Q

Tyrosinemia-Type III

A

few cases worldwide (very rare); mutation in HPD gene that results in deficiency of the enzyme 4-hyroxyphenylpyruvate deoxygenate (HPD); second of 5 enzymes involved in tyrosine metabolism; impaired mental development, seizures, and some intermittent loss of balance and coordination;

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9
Q

Alkaptonuria

A

inherited autosomal recessive disorder; 1 in 250,000 births worldwide; caused by mutation HGD gene; leads to deficiency of the enzyme homogentisate oxidase; elevated levels of homogentisic acid in blood, connective tissues, and urine; symptoms appear in 3rd decade of live (30s); dark-blue/black pigmentation (ochronosis); urine will turn brown/black in color when exposed to air; treatment with Vitamin C;

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10
Q

azotemia

A

elevated urea in blood

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11
Q

uremia

A

very high plasma urea concentrations accompanied by renal failure

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12
Q

Prerenal azotemia

A

result of reduced renal blood flow; less blood is delivered to kidney; consequently, less urea is filtered. elevates plasma urea but plasma creatinine remains normal = high urea N/creatinine ratio

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13
Q

Causative factors of prerenal azotemia

A

congestive heart failure, shock, hemorrhage, dehydration, and other factors that result in a significant decrease in blood volume; high protein diet and increased protein catabolism (caused by stress, fever, major illness, corticosteroid therapy, and GI hemorrhage)

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14
Q

renal azotemia

A

result of decreased renal function due to compromised urea excretion;

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15
Q

Causative factors of renal azotemia

A

acute and chronic renal failure, glomerular nephritis, tubular necrosis,

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16
Q

post renal azotemia

A

result of obstruction of urine flow at any point in the urinary tract; high urea N/creatinine ratio with elevated creatinine

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17
Q

Causative factors of postrenal azotemia

A

renal calculi, tumors of the bladder or prostate, or severe infection

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18
Q

decreased urea plasma

A

low protein intake and severe liver disease; late stage pregnancy and in infancy due to increased protein synthesis; low urea N/creatinine ratio

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19
Q

Glomerular nephritis

A

type of kidney disease where there is inflammation of the glomeruli (tiny filters that remove excess waste and fluids from the blood); detected by urinalysis (red or white blood cells, infection, or high protein content),

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20
Q

Glomerular nephritis causes

A

toxins, medicines, viral infections (i.e. hep b or c, HIV), IgA nephropathy, lupus-related kidney inflammation, bacterial infections (strep/staph)

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21
Q

Hyperuricemia

A

result of overproduction of uric acid, increased metabolism of of cell nuclei; can be exacerbated by a purine rich diet, drugs (chemotherapy), and alcohol;

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22
Q

Lesch-Nyhan

A

X-linked genetic disorder (males) caused by complete deficiency of hypo-xanthine-guanine phosphoribosyltransferase, an important enzyme in the biosynthesis of purines; results in high plasma and urine concentrations of uric acid

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23
Q

Hyperargininemia

A

High blood ammonia; normal anion gap; increased arginine and increased orotic acid

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24
Q

Citrullemia

A

High blood ammonia; normal anion gap; increased citrulline (significant); decreased arginine

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25
Q

Ornithine transcarbamylase deficiency (OTC)

A

High blood ammonia; normal anion gap; decreased arginine; decreased citrulline, increased glutamine; normal orotic acid

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26
Q

Carbamoylphosphataste synthase I (CPSI) deficiency

A

High blood ammonia; normal anion gap; decreased citrulline, increased glutamine

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27
Q

Argininosuccinic acidemia (acidula) (ASA)

A

High blood ammonia; normal anion gap; increased citrulline; decreased arginine; increased argininosuccinic acid in urine

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28
Q

Urea Cycle Disorder

A

High blood ammonia; normal anion gap

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29
Q

Pyruvate decarboxylase (PC) deficiency

A

Increased ammonia; high anion gap; with ketosis; increased ammonia; increased lactate; increased pyruvate; increased acetoacetate

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30
Q

Organic Acidemia

A

Increased ammonia; high anion gap; with ketosis; increased ammonia; normal lactate

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31
Q

Hypoglycemia

A

decreased glucose

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32
Q

Fatty acid oxidation (FAO) defect

A

normal plasma ammonia; increased anion gap; no ketosis; increased lactate; hypoglycemia

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33
Q

3-hydroxy-3-methylglutaryl-Co (HMG-CoA) lyase deficiency

A

normal plasma ammonia; increased anion gap; no ketosis; increased lactate; hypoglycemia; increased leucine; Elevated C5-OH (acylcarnitine)

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34
Q

Normoglycemia

A

normal glucose

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35
Q

Pyruvate dehydrogenase (PDH) deficiency

A

normal plasma ammonia; increased anion gap (severe acidosis); no ketosis; increased lactate; normoglycemia; increased alanine in urine

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36
Q

Renal tubular acidosis

A

normal plasma ammonia; increased anion gap; no ketosis; normal lactate; decreased K+

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37
Q

galactosemia

A

normal plasma ammonia; normal anion gap; increased galactose; decreased GALT activity

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38
Q

Fructose-1,6-biphosphatase (FBP) deficiency

A

normal plasma ammonia; high anion gap; with ketosis; increased lactate; hypoglycemia

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39
Q

Glycogen Storage Disease (GSD I -Von Gierke)

A

normal plasma ammonia; high anion gap; with ketosis; increased lactate; hypoglycemia; enlarged liver

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40
Q

Respiratory Chain Disorder

A

normal plasma ammonia; high anion gap; with ketosis; increased lactate; hypo or normoglycemia

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41
Q

Adrenal Insufficiency

A

normal plasma ammonia; high anion gap; with ketosis; normal lactate; hypoglycemia

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42
Q

Maple Syrup Urine Disease (MSUD)

A

normal plasma ammonia; high anion gap; with ketosis; normal lactate; normoglycemia; maple syrup odor in urine; elevated BCAA (including all-isoleucine); elevated BCKA; elevated leucine/isoleucine; increased 2-OH-isovaleric acid

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43
Q

3-met-crotonyl-CoA carboxylase deficiency

A

normal glucose, normal ammonia

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44
Q

THAN

A

increased ammonia in premature newborn <24 hrs of age;

45
Q

B-6 dependency

A

Chronic encephalopathy; not abnormal outside CNS (only neural); signs of great matter disease - seizures, visual impairment; dementia

46
Q

B-6 dependency

A

Chronic encephalopathy; not abnormal outside CNS (only neural); signs of great matter disease - seizures, visual impairment; dementia

47
Q

Biotinidase deficiency

A

Chronic encephalopathy; not abnormal outside CNS (only neural); signs of great matter disease - seizures, visual impairment; dementia

48
Q

NCL

A

Chronic encephalopathy; not abnormal outside CNS (only neural); signs of great matter disease - seizures, visual impairment; dementia

49
Q

GM2

A

Chronic encephalopathy; not abnormal outside CNS (only neural); signs of great matter disease - seizures, visual impairment; dementia

50
Q

CRSM Syndrome

A

Chronic encephalopathy; not abnormal outside CNS (only neural); signs of great matter disease - seizures, visual impairment; dementia

51
Q

Leigh Disease

A

Chronic encephalopathy; not abnormal outside CNS (only neural); signs of great matter disease - seizures, visual impairment; dementia

52
Q

Alpers Disorder

A

Chronic encephalopathy; not abnormal outside CNS (only neural); signs of great matter disease - seizures, visual impairment; dementia

53
Q

MELAS

A

Chronic encephalopathy; not abnormal outside CNS (only neural); signs of great matter disease - seizures, visual impairment; dementia

54
Q

Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD)

A

inability to breakdown long-chain fatty acids; hypoglycemia; photophobia; elevation of C16-OH and other hydroxyacylcarnitine species

55
Q

Medium-chain acyl-CoA dehydrogenase (MCAD)

A

inability to breakdown medium-chain fatty acids; nonketotic hypoglycemia; seizures; Elevations of C8, C6, C10, C10:1 acylcarnitines; Elevations of urinary dicarboxylic acids, hexanoylglycine, suberylglycine, and cis-4-decenoic acid; Classis- Have hepatomegaly accompanied by hypoketotic hypoglycemia, hyperuricemia, elevated LFTs, mild hyperammonemia, elevated anion gap

56
Q

Very long-chain acyl-CoA dehydrogenase (VLCAD)

A

inability to breakdown very long-chain fatty acids; hypoglycemia; seizures; elevated C14:1 +/- other long-chain acylcarnitines

57
Q

B-6 dependency

A

Chronic encephalopathy; not abnormal outside CNS (only neural); signs of great matter disease - seizures, visual impairment; dementia; decreased B-6; metabolic disorders prevented or alleviated by B-6 (pyridoxine)

58
Q

Biotinidase deficiency

A

Chronic encephalopathy; not abnormal outside CNS (only neural); signs of grey matter disease - seizures, visual impairment; dementia; decreased biotinidase activity; hypotonia

59
Q

Neuronal ceroid lipofuscinosis (NCL)

A

Chronic encephalopathy; not abnormal outside CNS (only neural); signs of grey matter disease - seizures, visual impairment; dementia

60
Q

GM2

A

Chronic encephalopathy; not abnormal outside CNS (only neural); signs of grey matter disease - seizures, visual impairment; dementia; lysosomal storage disorders; Reduced plasma α-galactosidase enzyme activity

61
Q

Cherry red spot myoclonus syndrome (CRSM) Syndrome (Sialidosis; Mucolipidosis)

A

Chronic encephalopathy; not abnormal outside CNS (only neural); signs of grey matter disease - seizures, visual impairment; dementia; abnormal oligosaccharide pattern in urine; deficiency of alpha-N -acetyl neuraminidase activity

62
Q

Leigh Disease

A

Chronic encephalopathy; not abnormal outside CNS (only neural); signs of grey matter disease - seizures, visual impairment; dementia; lactic acidosis; hyperalaninemia; increase of lactate/pyruvate ration in blood; elevation of 2-oxyglutarate, succinate, fumarate and malate; Ethylmalonic encephalopathy

63
Q

Gaucher

A

Chronic encephalopathy; abnormal outside CNS (neurological visceral and muscular skeletal); HSM and bone

64
Q

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)

A

Chronic encephalopathy; not abnormal outside CNS (only neural); signs of grey matter disease - seizures, visual impairment; dementia

65
Q

Canavan Disease

A

Chronic encephalopathy; not abnormal outside CNS (only neural); signs of white matter disease - motor difficulties, disorders of tone; increased N-acetyl-L-aspartate (NAA

66
Q

Alexander Disease

A

Chronic encephalopathy; not abnormal outside CNS (only neural); signs of white matter disease - motor difficulties, disorders of tone

67
Q

X-Linked Adrenoleukodystrophy (XLALD)

A

Chronic encephalopathy; not abnormal outside CNS (only neural); signs of white matter disease - motor difficulties, disorders of tone; VLCAD

68
Q

Metachromatic leukodystrophy (MLD)

A

Chronic encephalopathy; not abnormal outside CNS (only neural); signs of white matter disease - motor difficulties, disorders of tone; decreased sulfatase enzyme activity; urinary sulfatide excretion

69
Q

Krabbe globoid-cell leukodystrophy (GLD)

A

Chronic encephalopathy; not abnormal outside CNS (only neural); signs of white matter disease - motor difficulties, disorders of tone; decrease in GALC enzyme activity

70
Q

Gaucher

A

Chronic encephalopathy; abnormal outside CNS (neurological visceral and muscular skeletal); HSM and bone; decreased beta-glucosidase leukocyte activity

71
Q

Norrie Disorder (NDP)

A

Chronic encephalopathy; abnormal outside CNS (neurological visceral and muscular skeletal); HSM and bone

72
Q

Mucopolysaccharidosis (MPS)

A

Chronic encephalopathy; abnormal outside CNS (neurological visceral and muscular skeletal); HSM and bone; increase in urine glycosaminoglycans; deficiency of α-L-iduronidase

73
Q

Zellweger

A

Chronic encephalopathy; abnormal outside CNS (neurological visceral and muscular skeletal); HSM and bone; VLCD; abnormal C27-bile acid; abnormal dicarboxylic acids and pipecolic acid in plasma

74
Q

Homocystinuria

A

Chronic encephalopathy; abnormal outside CNS (neurological visceral and muscular skeletal); Skin with tissue; elevated methionine; markedly elevated total plasma homocysteine

75
Q

Menkes

A

Chronic encephalopathy; abnormal outside CNS (neurological visceral and muscular skeletal); Skin with tissue; hyperbilirubinemia; decreased ceruloplasmin;

76
Q

Fucosidoses

A

Chronic encephalopathy; abnormal outside CNS (neurological visceral and muscular skeletal); Skin with tissue; deficiency of the enzyme alpha-L-fucosidase

77
Q

Galactosialidosis

A

Chronic encephalopathy; abnormal outside CNS (neurological visceral and muscular skeletal); Skin with tissue; impaired functioning of cathepsin A

78
Q

Prolidase Deficiency

A

Chronic encephalopathy; abnormal outside CNS (neurological visceral and muscular skeletal); Skin with tissue

79
Q

Multiple sclerosis

A

oligoclonal banding of CSF proteins not present in serum; elevated IgG in CSF; elevated IgG index; significantly increased white blood cell count CSF; impaired transmission along optic nerve;

80
Q

myocardial infarction

A

elevated CK-MB greater than 6% of the total CK (rises within 4-8 hours, peaks at 12-24 hours, returns to normal in 48-72 hours; not specific to AMI); increased levels of troponin I and T

81
Q

Muscular dystrophy

A

Elevated levels of serum aldolase; elevated CK values; genetic test is definitive

82
Q

polymyositis

A

Elevated levels of serum aldolase; increase in CK levels; increase in myositis antibodies

83
Q

hypothyroidism

A

low level of thyroxine and high level of TSH

84
Q

malignant hyperthermia

A

increased CK levels, molecular test definitive

85
Q

ischemia

A

implication of myocardial infarction

86
Q

Duchenne type muscular dystrophy

A

elevated CK levels, molecular test definitive

87
Q

Reye’s syndrome

A

increased serum ammonia; increased serum transaminase; encephalopathy

88
Q

Rocky Mountain spotted fever

A

indirect immunofluorescence antibody (IFA) assay for immunoglobulin G (IgG) using R. rickettsii antigen; Thrombocytopenia, slightly increased hepatic transaminase levels, normal or slightly increased white blood cell count with increased immature neutrophils, hyponatremia

89
Q

Carbon monoxide poisoning

A

elevated level of carboxyhemoglobin;

90
Q

hemolytic anemia

A

decreased haptoglobin; elevated LDH; increased unconjugated bilirubin; increased reticulocyte count; urobilinogen, positive for blood

91
Q

megaloblastic anemia

A

decrease in HGB, hemcrit, WBCs, RBCs, platelets; increased serum total and indirect bilirubin; increased serum LDH;

  1. B12 deficiency (decreased B12; increased serum methylmalonic acid; increased serum homocysteine);
  2. folate deficiency (decreased serum folate; decreased RBC folate; increased serum homocysteine;
92
Q

pulmonary pneumonia

A

Leukocytosis; elevations in creatinine and blood urea nitrogen; low blood oxygen levels;

93
Q

lymphocytosis

A

increase of white blood cells due to infection

94
Q

pancreatitis

A

serum amylase and/or lipase significantly elevated; significant elevation of triglycerides; increased BUN

95
Q

pernicious anemia

A

highest total LDH levels

96
Q

Paget’s disease

A

osteitis deformans; highest elevation of ALP; elevations of ACP;

97
Q

hypoposphatasia

A

decreased levels of ALP;

98
Q

Hypoadrenalism

A

increased sodium loss (hyonatremia); increased Mg(2+)

99
Q

Potassium deficiency

A

increased sodium loss (hyonatremia)

100
Q

Ketonuria

A

increased sodium loss (hyonatremia)

101
Q

salt-losing nephropathy

A

increased sodium loss (hyonatremia)

102
Q

Nephrotic Syndrom

A

Increased water retention (hyponatremia)

103
Q

Hepatic Cirrhosis

A

Increased water retention (hyponatremia); jaundice; increased ALT and AST; normal or mildly elevated ALP; decreased albumin;

104
Q

SIADH

A

Water imbalance (hyponatremia); increased ADH (antidiuretic hormone); decreased water excretion; hypervolemia; decreased ECF osmolality

105
Q

multiple myeloma

A

hyponatremia; Elevated total protein; Elevated calcium; Low white or red blood cell count; Moderate to large amounts of protein in the urine; large amounts of an abnormal immunoglobulin protein (M-protein); 24 hour Urine free light chains kappa or lambda but not both; monoclonal IgG or IgA; Uric acid levels may be elevated; may be increased

106
Q

diabetes insipidous

A

hypernatremia; increased osmolality; impaired secretion of AVP or kidneys cannot respond to AVP;

107
Q

Hyperaldosteronism

A

decreased K+, increased Mg(2+) and Na+; hypertension; increased ratio of renin to aldosterone; alkalosis;

108
Q

Cushings syndrome

A

decreased K+; moon face; hump on back of neck; 24-hour urinary free-cortisol test increased cortisol; Late-night salivary cortisol test increased cortisol; Low-dose dexamethasone suppression test with no cortisol level drop; Dexamethasone–CRH test; normal or high ACTH;

109
Q

Waldenstrom macroglobulinemia)

A

increased monoclonal IgM;

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