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Clinical Presentations - Step 1 > Biochemistry > Flashcards

Biochemistry Flashcards

1
Q

intellectual disability, self-mutilations, aggression, hyperuricemia, gout, dystonia, macrocytosis

A

Lesch-Nyhan syndrome

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2
Q

dry skin, photosensitivity, skin cancer

A

xeroderma pigmentosum

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3
Q

hypotonia, seizures, jaundice, craniofacial dysmorphia, hepatomegaly, early death, PEX mutation

A

Zellweger syndrome

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4
Q

scaly skin, ataxia, cataracts/night blindiness, shortening of the 4th toe, epiphyseal dysplasia

A

Refsum disease

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5
Q

VLCFA buildup in adrenal glands, white matter, and testes

A

Adrenoleukodystrophy

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6
Q

situs inversus, hearing loss, sinusitis, ear infections, bronchiectasis, infertility, increased risk of ectopic pregnancy, decreased nasal nitric oxide

A

Primary ciliary dyskinesia

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7
Q

multiple bone deformities, blue sclerae, tooth abnormalities, conductive hearing loss

A

Osteogenesis imperfecta

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8
Q

hyperextensible skin, hypermobile joints, joint dislocation, berry and aortic aneurysms, organ rupture, gravid uterus

A

Ehler’s-Danlos syndrome

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9
Q

brittle hair, growth and developmental delay, hypotonia, increased risk of cerebral aneurysms

A

Menkes disease

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10
Q

long extremities, chest wall deformity, hypermobile joints, long fingers and toes, cystic medial necrosis of the aorta, aortic root aneurysm / rupture / dissection, mitral valve prolapse, increased risk of spontaneous pneumothorax

A

Marfan syndrome

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11
Q

pectus deformity, tall stature, increased arm:height ratio, decreased upper:lower body segment ratio, arachnodactly, joint hyperlaxity, skin hyperelasticity, scoliosis

A

Homocystinuria

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12
Q

unilateral cafe-au-lait spots with ragged edges, polyostotic fibrous dysplasia, at least one endocrinopathy

A

McCune-Albright syndrome

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13
Q

hyperphagia, obesity, intellectual disability, hypogonadism, hypotonia

A

Prader-Willi

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14
Q

seizures, ataxia, severe intellectual disability, inappropriate laughter

A

Angelman syndrome

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15
Q

recurrent pulmonary infections, allergic bronchopulonary aspergillosis, chronic bronchitis and bronchiectasis, reticulonodular pattern on CXR, opacification of sinuses, nasal polyps, nail clubbing, pancreatic insufficiency, malabsorption with steatorrhea, fat soluble vitamin [A. D. E. K.] deficiencies, meconium ileus in newborns, infertility in males, subfertility in females

A

cystic fibrosis

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16
Q

muscle weakness starting from pelvic girdle and progressing superiorly, pseudohypertrophy of calf muscles, waddling gait, onset before 5 years of age, increased risk of dilated cardiomyopathy, gower’s sign

A

Duchenne muscular dystrophy

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17
Q

muscle weakness starting from pelvic girdle and progressing superiorly, pseudohypertrophy of calf muscles, waddling gait, onset before 5 years of age, increased risk of dilated cardiomyopathy, gower’s sign

less severe due to non-frameshift mutation

A

Becker muscular dystrophy

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18
Q

myotonia, muscle wasting, cataracts, testicular atrophy, frontal balding, arrhythmia

A

Myotonic dystrophy

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19
Q

mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes

A

MELAS

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20
Q

myoclonic epilepsy with ragged red fibers

A

MERRF

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21
Q

myoclonic epilepsy with ragged red fibers

A

MERRF

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22
Q

neuronal death of the retina and optic nerve, subacute bilateral vision loss in teens/young adults/ usually permanent, possibly tremors, multiple sclerosis-like illness

A

Leber hereditary optic neuropathy

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23
Q

females between age 1-4, regression in motor, verbal, and cognitive abilities, ataxia, seizures, growth deceleration, and stereotyped hand-wringing

A

Rett syndrome

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24
Q

tremor, ataxia, primary ovarian insufficiency, postpubertal macroorchidism, long face with long jaw, large everted ears, autism, mitral valve prolapse, hypermobile joints, self mutation, CGG trinucleotide repeat

A

Fragile X syndrome

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25
Q

CAC trinucleotide repeats

A

Huntington disease

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26
Q

CTG trinucleotide repeats

A

Myotonic dystrophy

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27
Q

GAA trinucleotide repeat

A

Friedrich ataxia

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28
Q

intellectual disability, flat facies, prominent epicanthal folds, single palmar crease, incurved 5th finger, gap between 1st and second toes, duodenal atresia, hirschprung disease, congenital heart disease, Brushfield spots, early onset alzheimer’s, increased risk of AML/ALL

A

Down’s syndrome

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29
Q

prominent occiput, rocker-bottom feet, intellectual disability, nondisjunction, clenched fists with overlapping fingers, low set ears, micrognathia, congenital heart disease, omphalocele, myelomeningocele, death by age 1

A

Edwards syndrome

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30
Q

severe intellectual disability, rocker-bottom feet, microopthalmia, microcephaly, cleft lip/palate, holoprosencephaly, polydactly, cutis aplasia, congenital heart (pump) disease, polycystic kidney disease, omphalocele, death occurs by age 1

A

Patau syndrome

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31
Q

microcephaly, moderate to severe intellectual disability, high pitched crying, epicanthal folds, cardiac abnormalities [ventricular septal defect]

A

Cri-du-chat syndrome

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32
Q

elfin facies, intellectual disability, hypercalcemia, well developed verbal skills, extreme friendliness with strangers, cardiovascular problems [supravalvular aortic stenosis, renal artery stenosis]

A

Williams syndrome

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33
Q

night blindness, dry scaly skin, dry eyes, conjunctival squamous metaplasia, bitot spots, corneal degeneration, immunosuppression

A

Vitamin A deficiency

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34
Q

confusion, opthalmoplegia, nystagmus, ataxia

A

Wenicke encephalopathy

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35
Q

amenstic, confabulations, personality changes, permanent memory loss, B1 deficiency

A

Korsakoff syndrome

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36
Q

confusion, opthalmoplegia, nystagmus, ataxia, confabulations, personalty changes, memory loss, damage of medial dorsal nucleus of the thalamus

A

Wernicke-Korsakoff syndrome

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37
Q

polyneuropathy, symmetric muscle wasting, B1 deficiency

A

Dry beriberi

38
Q

High output cardiac failure due to systemic vasodilation, B1 deficiency

A

Wet beriberi

39
Q

cheilosis [inflammation of the lips, scaling and fissures at the corners of the mouth] mangenta tongue, corneal vascularization

A

Vitamin B2 deficiency

40
Q

glossitis, pellagra, malignant carcinoid syndrome, diarrhea, dementia, dermatitis, hyperpigmentation of sun exposed limgs

A

Vitamin B3 deficiency

41
Q

dermatitis, enteritis, alopecia, adrenal insufficiency leading to burning sensation of the feet

A

Vitamin B5 deficiency

42
Q

convulsions, hyperirritability, peripheral neuropathy, sideroblastic anemia

A

Vitamin B6 deficiency

43
Q

Dermatitis, enteritis, alopecia, caused by long term antibiotic use

A

Vitamin B7 deficiency

44
Q

macrocytic, megaloblastic anemia, glossitis, increased homocysteine, normal methylmalonic acid

A

Vitamin B9 deficiency

45
Q

macrocytic, megaloblastic anemia, hypersegmented polymorphonuclear cells, subacute combined degeneration of the dorsal columns, lateral corticospinal tracts, and spinocerebellar tracts, increased homocysteine and methylmalonic acid, secondary folate deficiency

A

Vitamin B12 deficiency

46
Q

swollen gums, easy bruising, petechiae, hemarthrosis, anemia, poor wound healing, perifollicular and subperiosteal hemorrhages, corkscrew hair, weakened immune response

A

Vitamin C deficiency

47
Q

bone deformity, osteomalacia in adults, hypocalcemic tetany

A

Vitamin D deficiency

48
Q

hemolytic anemia, acanthocytosis, muscle weakness, demyelination of posterior columns and spinocerebellar tract

A

Vitamin E deficiency

49
Q

neonatal hemorrhage with increased PT and aPTT, normal bleeding time, after prolonged use of broad spectrum antibiotics

A

Vitamin K deficiency

50
Q

delayed wound healing, suppressed immunity, male hypogonadism, decreased adult hair [axillary, facial, pubic], dysgeusia, anosmia, associated with acrodermatitis enteropathica, may predispose to alcoholic cirrhosis

A

Zinc deficiency

51
Q

malnutrition, edema, anemia, fatty liver, skin lesions [hyperkeratosis, dyspigmentation]

A

Kwashiorkor

52
Q

malnutrition without edema, muscle wasting

A

Marasmus

53
Q

neurologic defects, lactic acidosis, increased serum alanine starting in infancy

A

Pyruvate dehydrogenase complex deficiency

54
Q

fava beans, sulfonamides, nitrofurantoin, primaquine/chloroquine/antituberulosis drugs, infection, precipitates hemolysis, X-linked recessive, sub-Saharan Africa, Southeast Asia, heinz bodies, bite cells

A

Glucose-6-phosphate dehydrogenase deficiency

55
Q

fructose in blood and urine

A

Essential fructosuria

56
Q

hypoglycemia, jaundice, cirrhosis, and vomiting following consumption of fruit, juice, or honey

A

Hereditary fructose intolerance

57
Q

galactosemia and galactosuria, infantile cataracts

A

Galactokinase deficiency

58
Q

failure to thirve, jaundice, hepatomegaly, infantile cataracts, intellectual disability, begins when an infant starts to feed

A

Classic galactosemia

59
Q

cataracts, retinopathy, peirpheral neuropathy

A

Aldose reductase deficiency

60
Q

Bloating, cramps, flatulence, osmotic diarrhea

A

Lactase deficiency

61
Q

flapping tremor [asterixis], slurring of speech, somnolence, vomiting, cerebral edema, blurring of vision, increased ammonia, decreased GABA, decreased a-ketoglutarate

A

hyperammonemia

62
Q

increased orotic acid in the blood and urine, decreased BUN, symptoms of hyperammonemia

A

Orinthine transcarbamylase deficiency

63
Q

intellectual disabillity, microcephaly, seizures, hypopigmented skin, eczema, musty body odor

A

Phenylketonuria

64
Q

vomiting, poor feeding, urine smelling like maple syrup/burnt sugar, progressive neurological decline

A

Maple syrup urine disease

65
Q

bluish-black connective tissue, ear cartilage, sclerae, urine turns black on prolonged exposure to air, may have debilitating arthralgias

A

Alkaptonuria

66
Q

osteoporosis, marfanoid habitus, ocular changes, thrombosis and atherosclerosis leading to stroke and MI, kyphosis, intellectual disability, hypopigmented skin, increased homocysteine in urine

A

Homocystinuria

67
Q

hexagonal cystine stones

A

Cystinuria

68
Q

poor feeding, vomiting, hypotonia, high anion gap metabolic acidosis, hepatomegaly, seizures, decreased propionyl-CoA, decreased methylmalonic acid

A

Propionic acidemia

69
Q

poor feeding, vomiting, hypotonia, high anion gap metabolic acidosis, hepatomegaly, seizures, deficiency of methylmalonyl-CoA mutase or vitamin B12

A

Methylmalonic acidemia

70
Q

severe fasting hypoglycemia, increased glycogen in the liver and kidneys, increased blood lactate, increased triglycerides, increased uric acid [gout], hepatomegaly, renomegaly

A

Von Gierke disease

71
Q

cardiomyopathy, hypotonia, exercise intolerance, enlarged tongue, systemic findings leading to early death

A

Pompe disease

72
Q

Cardiomyopathy, hypotonia, exercise intolerance, enlarged tongue, systemic findings leading to early death, not as severe, normal blood lactate

A

Cori disease

73
Q

hepatosplenomegaly, failure to thrive in early infancy, infantile cirrhosis, muscular weakness, hypotonia, cardiomyopathy, early childhood death

A

Andersen disease

74
Q

painful muscle cramps, myoglobinuria with strenuous exercise, arrhythmia from electrolyte abnormalities, second wind phenomenon

A

McArdle disease

75
Q

progressive neurodegeneration, developmental delay, hyperreflexia, hyperacusis, cherry red spot on macula, lysosomes with onion skin

A

Tay-Sachs disease

76
Q

episodic neuropathy, angiokeratomas, hypohidrosis, progressive renal failure, cardiovascular disease

A

Fabry disease

77
Q

Central and peripheral demyelination with ataxia and demenita

A

Metachromatic leukodystrophy

78
Q

Peripheral neuropathy, destruction of oligodendrocytes, developmental delay, optic atrophy, globoid cells

A

Krabbe disease

79
Q

hepatosplenomegaly, pancytopenia, osteoporosis, avascular necrosis of the femur, bone crises, Gaucher cells

A

Gaucher disease

80
Q

Progressive neurodegeneration, hepatosplenomegaly, foam cells, cherry red spot on the macula

A

Niemann-Pick disease

81
Q

developmental delay, skeletal abnormalities, airway obstruction, corneal clouding, hepatosplenomegaly

A

Hurler syndrome

82
Q

Mild Hurler syndrome and aggressive behavior, no corneal clouding

A

Hunter syndrome

83
Q

weakness, hypotonia, hypoketotic hypoglycemia, dilated cardiomyopathy

A

Systemic 1* carnitine deficiency

84
Q

vomiting, lethargy, seizures, coma, liver dysfunction, hyperammonemia, can lead to sudden death in infants or children

A

Medium-chain acyl-CoA dehydrogenase deficiency

85
Q

severe fat malabsorption, steatorrhea, failure to thirve, later manifesting retinitis pigmentosa, spinocerebellar degeneration due to vitamin E deficiency, progressive ataxia, acanthocytosis, lipid-laden enterocytes

A

Abetalipoproteinemia

86
Q

pancreatitis, hepatosplenomegaly, eruptive/pruritic xanthomas, creamy layer in supernatant

A

Familial dyslipidemia type I hyperchlomicronemia

87
Q

accelerated atherosclerosis [MI before age 20], tendon [achilles] xanthomas, corneal arcus

A

Familial dyslipidemias type II hypercholesterolemia

88
Q

Premature atherosclerosis, tuberoeruptive and palmar xanthomas

A

Familial dyslipidemias type III dysbetalipoproteinemia

89
Q

Hypertriglyceridemia >1000 mg/dL, can cause acute pancreatitis, related to insulin resistance

A

Familial dyslipidemias type IV hypertriglyceridemia

90
Q

Familial dyslipidemias type II hypercholesterolemia

A

accelerated atherosclerosis [MI before age 20], tendon [achilles] xanthomas, corneal arcus

91
Q

Familial dyslipidemias type III dysbetalipoproteinemia

A

Premature atherosclerosis, tuberoeruptive and palmar xanthomas

92
Q

Familial dyslipidemias type IV hypertriglyceridemia

A

Hypertriglyceridemia >1000 mg/dL, can cause acute pancreatitis, related to insulin resistance

Clinical Presentations - Step 1 (2 decks)

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