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Clinical Presentations - Step 1 > Biochemistry - Reversed > Flashcards

Biochemistry - Reversed Flashcards

1
Q

Lesch-Nyhan syndrome

A

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

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2
Q

xeroderma pigmentosum

A

dry skin, photosensitivity, skin cancer

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3
Q

Zellweger syndrome

A

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

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4
Q

Refsum disease

A

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

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5
Q

Adrenoleukodystrophy

A

VLCFA buildup in adrenal glands, white matter, and testes

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6
Q

Primary ciliary dyskinesia

A

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

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7
Q

Osteogenesis imperfecta

A

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

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8
Q

Ehler’s-Danlos syndrome

A

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

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9
Q

Menkes disease

A

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

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10
Q

Marfan syndrome

A

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

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11
Q

Homocystinuria

A

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

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12
Q

McCune-Albright syndrome

A

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

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13
Q

Prader-Willi

A

hyperphagia, obesity, intellectual disability, hypogonadism, hypotonia

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14
Q

Angelman syndrome

A

seizures, ataxia, severe intellectual disability, inappropriate laughter

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15
Q

cystic fibrosis

A

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

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16
Q

Duchenne muscular dystrophy

A

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

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17
Q

Becker muscular dystrophy

A

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

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18
Q

Myotonic dystrophy

A

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

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19
Q

MELAS

A

mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes

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20
Q

MERRF

A

myoclonic epilepsy with ragged red fibers

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21
Q

Leber hereditary optic neuropathy

A

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

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22
Q

Rett syndrome

A

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

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23
Q

Fragile X syndrome

A

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

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24
Q

Huntington disease

A

CAC trinucleotide repeats

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25
Q

Myotonic dystrophy

A

CTG trinucleotide repeats

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26
Q

Friedrich ataxia

A

GAA trinucleotide repeat

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27
Q

Down’s syndrome

A

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

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28
Q

Edwards syndrome

A

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

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29
Q

Patau syndrome

A

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

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30
Q

Cri-du-chat syndrome

A

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

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31
Q

Williams syndrome

A

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

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32
Q

Vitamin A deficiency

A

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

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33
Q

Wenicke encephalopathy

A

confusion, opthalmoplegia, nystagmus, ataxia

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34
Q

Korsakoff syndrome

A

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

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35
Q

Wernicke-Korsakoff syndrome

A

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

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36
Q

Dry beriberi

A

polyneuropathy, symmetric muscle wasting, B1 deficiency

37
Q

Wet beriberi

A

High output cardiac failure due to systemic vasodilation, B1 deficiency

38
Q

Vitamin B2 deficiency

A

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

39
Q

Vitamin B3 deficiency

A

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

40
Q

Vitamin B5 deficiency

A

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

41
Q

Vitamin B6 deficiency

A

convulsions, hyperirritability, peripheral neuropathy, sideroblastic anemia

42
Q

Vitamin B7 deficiency

A

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

43
Q

Vitamin B9 deficiency

A

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

44
Q

Vitamin B12 deficiency

A

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

45
Q

Vitamin C deficiency

A

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

46
Q

Vitamin D deficiency

A

bone deformity, osteomalacia in adults, hypocalcemic tetany

47
Q

Vitamin E deficiency

A

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

48
Q

Vitamin K deficiency

A

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

49
Q

Zinc deficiency

A

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

50
Q

Kwashiorkor

A

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

51
Q

Marasmus

A

malnutrition without edema, muscle wasting

52
Q

Pyruvate dehydrogenase complex deficiency

A

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

53
Q

Glucose-6-phosphate dehydrogenase deficiency

A

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

54
Q

Essential fructosuria

A

fructose in blood and urine

55
Q

Hereditary fructose intolerance

A

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

56
Q

Galactokinase deficiency

A

galactosemia and galactosuria, infantile cataracts

57
Q

Classic galactosemia

A

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

58
Q

Aldose reductase deficiency

A

cataracts, retinopathy, peirpheral neuropathy

59
Q

Lactase deficiency

A

Bloating, cramps, flatulence, osmotic diarrhea

60
Q

hyperammonemia

A

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

61
Q

Orinthine transcarbamylase deficiency

A

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

62
Q

Phenylketonuria

A

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

63
Q

Maple syrup urine disease

A

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

64
Q

Alkaptonuria

A

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

65
Q

Homocystinuria

A

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

66
Q

Cystinuria

A

hexagonal cystine stones

67
Q

Propionic acidemia

A

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

68
Q

Methylmalonic acidemia

A

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

69
Q

Von Gierke disease

A

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

70
Q

Pompe disease

A

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

71
Q

Cori disease

A

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

72
Q

Andersen disease

A

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

73
Q

McArdle disease

A

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

74
Q

Tay-Sachs disease

A

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

75
Q

Fabry disease

A

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

76
Q

Metachromatic leukodystrophy

A

Central and peripheral demyelination with ataxia and demenita

77
Q

Krabbe disease

A

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

78
Q

Gaucher disease

A

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

79
Q

Niemann-Pick disease

A

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

80
Q

Hurler syndrome

A

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

81
Q

Hunter syndrome

A

Mild Hurler syndrome and aggressive behavior, no corneal clouding

82
Q

Systemic 1* carnitine deficiency

A

weakness, hypotonia, hypoketotic hypoglycemia, dilated cardiomyopathy

83
Q

Medium-chain acyl-CoA dehydrogenase deficiency

A

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

84
Q

Abetalipoproteinemia

A

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

85
Q

Familial dyslipidemia type I hyperchlomicronemia

A

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

86
Q

Familial dyslipidemias type II hypercholesterolemia

A

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

87
Q

Familial dyslipidemias type III dysbetalipoproteinemia

A

Premature atherosclerosis, tuberoeruptive and palmar xanthomas

88
Q

Familial dyslipidemias type IV hypertriglyceridemia

A

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

89
Q

MERRF

A

myoclonic epilepsy with ragged red fibers

Clinical Presentations - Step 1 (2 decks)

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