Biochemistry - Reversed Flashcards
Lesch-Nyhan syndrome
intellectual disability, self-mutilations, aggression, hyperuricemia, gout, dystonia, macrocytosis
xeroderma pigmentosum
dry skin, photosensitivity, skin cancer
Zellweger syndrome
hypotonia, seizures, jaundice, craniofacial dysmorphia, hepatomegaly, early death, PEX mutation
Refsum disease
scaly skin, ataxia, cataracts/night blindiness, shortening of the 4th toe, epiphyseal dysplasia
Adrenoleukodystrophy
VLCFA buildup in adrenal glands, white matter, and testes
Primary ciliary dyskinesia
situs inversus, hearing loss, sinusitis, ear infections, bronchiectasis, infertility, increased risk of ectopic pregnancy, decreased nasal nitric oxide
Osteogenesis imperfecta
multiple bone deformities, blue sclerae, tooth abnormalities, conductive hearing loss
Ehler’s-Danlos syndrome
hyperextensible skin, hypermobile joints, joint dislocation, berry and aortic aneurysms, organ rupture, gravid uterus
Menkes disease
brittle hair, growth and developmental delay, hypotonia, increased risk of cerebral aneurysms
Marfan syndrome
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
Homocystinuria
pectus deformity, tall stature, increased arm:height ratio, decreased upper:lower body segment ratio, arachnodactly, joint hyperlaxity, skin hyperelasticity, scoliosis
McCune-Albright syndrome
unilateral cafe-au-lait spots with ragged edges, polyostotic fibrous dysplasia, at least one endocrinopathy
Prader-Willi
hyperphagia, obesity, intellectual disability, hypogonadism, hypotonia
Angelman syndrome
seizures, ataxia, severe intellectual disability, inappropriate laughter
cystic fibrosis
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
Duchenne muscular dystrophy
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
Becker muscular dystrophy
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
Myotonic dystrophy
myotonia, muscle wasting, cataracts, testicular atrophy, frontal balding, arrhythmia
MELAS
mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes
MERRF
myoclonic epilepsy with ragged red fibers
Leber hereditary optic neuropathy
neuronal death of the retina and optic nerve, subacute bilateral vision loss in teens/young adults/ usually permanent, possibly tremors, multiple sclerosis-like illness
Rett syndrome
females between age 1-4, regression in motor, verbal, and cognitive abilities, ataxia, seizures, growth deceleration, and stereotyped hand-wringing
Fragile X syndrome
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
Huntington disease
CAC trinucleotide repeats
Myotonic dystrophy
CTG trinucleotide repeats
Friedrich ataxia
GAA trinucleotide repeat
Down’s syndrome
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
Edwards syndrome
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
Patau syndrome
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
Cri-du-chat syndrome
microcephaly, moderate to severe intellectual disability, high pitched crying, epicanthal folds, cardiac abnormalities [ventricular septal defect]
Williams syndrome
elfin facies, intellectual disability, hypercalcemia, well developed verbal skills, extreme friendliness with strangers, cardiovascular problems [supravalvular aortic stenosis, renal artery stenosis]
Vitamin A deficiency
night blindness, dry scaly skin, dry eyes, conjunctival squamous metaplasia, bitot spots, corneal degeneration, immunosuppression
Wenicke encephalopathy
confusion, opthalmoplegia, nystagmus, ataxia
Korsakoff syndrome
amenstic, confabulations, personality changes, permanent memory loss, B1 deficiency
Wernicke-Korsakoff syndrome
confusion, opthalmoplegia, nystagmus, ataxia, confabulations, personalty changes, memory loss, damage of medial dorsal nucleus of the thalamus
Dry beriberi
polyneuropathy, symmetric muscle wasting, B1 deficiency
Wet beriberi
High output cardiac failure due to systemic vasodilation, B1 deficiency
Vitamin B2 deficiency
cheilosis [inflammation of the lips, scaling and fissures at the corners of the mouth] mangenta tongue, corneal vascularization
Vitamin B3 deficiency
glossitis, pellagra, malignant carcinoid syndrome, diarrhea, dementia, dermatitis, hyperpigmentation of sun exposed limgs
Vitamin B5 deficiency
dermatitis, enteritis, alopecia, adrenal insufficiency leading to burning sensation of the feet
Vitamin B6 deficiency
convulsions, hyperirritability, peripheral neuropathy, sideroblastic anemia
Vitamin B7 deficiency
Dermatitis, enteritis, alopecia, caused by long term antibiotic use
Vitamin B9 deficiency
macrocytic, megaloblastic anemia, glossitis, increased homocysteine, normal methylmalonic acid
Vitamin B12 deficiency
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
Vitamin C deficiency
swollen gums, easy bruising, petechiae, hemarthrosis, anemia, poor wound healing, perifollicular and subperiosteal hemorrhages, corkscrew hair, weakened immune response
Vitamin D deficiency
bone deformity, osteomalacia in adults, hypocalcemic tetany
Vitamin E deficiency
hemolytic anemia, acanthocytosis, muscle weakness, demyelination of posterior columns and spinocerebellar tract
Vitamin K deficiency
neonatal hemorrhage with increased PT and aPTT, normal bleeding time, after prolonged use of broad spectrum antibiotics
Zinc deficiency
delayed wound healing, suppressed immunity, male hypogonadism, decreased adult hair [axillary, facial, pubic], dysgeusia, anosmia, associated with acrodermatitis enteropathica, may predispose to alcoholic cirrhosis
Kwashiorkor
malnutrition, edema, anemia, fatty liver, skin lesions [hyperkeratosis, dyspigmentation]
Marasmus
malnutrition without edema, muscle wasting
Pyruvate dehydrogenase complex deficiency
neurologic defects, lactic acidosis, increased serum alanine starting in infancy
Glucose-6-phosphate dehydrogenase deficiency
fava beans, sulfonamides, nitrofurantoin, primaquine/chloroquine/antituberulosis drugs, infection, precipitates hemolysis, X-linked recessive, sub-Saharan Africa, Southeast Asia, heinz bodies, bite cells
Essential fructosuria
fructose in blood and urine
Hereditary fructose intolerance
hypoglycemia, jaundice, cirrhosis, and vomiting following consumption of fruit, juice, or honey
Galactokinase deficiency
galactosemia and galactosuria, infantile cataracts
Classic galactosemia
failure to thirve, jaundice, hepatomegaly, infantile cataracts, intellectual disability, begins when an infant starts to feed
Aldose reductase deficiency
cataracts, retinopathy, peirpheral neuropathy
Lactase deficiency
Bloating, cramps, flatulence, osmotic diarrhea
hyperammonemia
flapping tremor [asterixis], slurring of speech, somnolence, vomiting, cerebral edema, blurring of vision, increased ammonia, decreased GABA, decreased a-ketoglutarate
Orinthine transcarbamylase deficiency
increased orotic acid in the blood and urine, decreased BUN, symptoms of hyperammonemia
Phenylketonuria
intellectual disabillity, microcephaly, seizures, hypopigmented skin, eczema, musty body odor
Maple syrup urine disease
vomiting, poor feeding, urine smelling like maple syrup/burnt sugar, progressive neurological decline
Alkaptonuria
bluish-black connective tissue, ear cartilage, sclerae, urine turns black on prolonged exposure to air, may have debilitating arthralgias
Homocystinuria
osteoporosis, marfanoid habitus, ocular changes, thrombosis and atherosclerosis leading to stroke and MI, kyphosis, intellectual disability, hypopigmented skin, increased homocysteine in urine
Cystinuria
hexagonal cystine stones
Propionic acidemia
poor feeding, vomiting, hypotonia, high anion gap metabolic acidosis, hepatomegaly, seizures, decreased propionyl-CoA, decreased methylmalonic acid
Methylmalonic acidemia
poor feeding, vomiting, hypotonia, high anion gap metabolic acidosis, hepatomegaly, seizures, deficiency of methylmalonyl-CoA mutase or vitamin B12
Von Gierke disease
severe fasting hypoglycemia, increased glycogen in the liver and kidneys, increased blood lactate, increased triglycerides, increased uric acid [gout], hepatomegaly, renomegaly
Pompe disease
cardiomyopathy, hypotonia, exercise intolerance, enlarged tongue, systemic findings leading to early death
Cori disease
Cardiomyopathy, hypotonia, exercise intolerance, enlarged tongue, systemic findings leading to early death, not as severe, normal blood lactate
Andersen disease
hepatosplenomegaly, failure to thrive in early infancy, infantile cirrhosis, muscular weakness, hypotonia, cardiomyopathy, early childhood death
McArdle disease
painful muscle cramps, myoglobinuria with strenuous exercise, arrhythmia from electrolyte abnormalities, second wind phenomenon
Tay-Sachs disease
progressive neurodegeneration, developmental delay, hyperreflexia, hyperacusis, cherry red spot on macula, lysosomes with onion skin
Fabry disease
episodic neuropathy, angiokeratomas, hypohidrosis, progressive renal failure, cardiovascular disease
Metachromatic leukodystrophy
Central and peripheral demyelination with ataxia and demenita
Krabbe disease
Peripheral neuropathy, destruction of oligodendrocytes, developmental delay, optic atrophy, globoid cells
Gaucher disease
hepatosplenomegaly, pancytopenia, osteoporosis, avascular necrosis of the femur, bone crises, Gaucher cells
Niemann-Pick disease
Progressive neurodegeneration, hepatosplenomegaly, foam cells, cherry red spot on the macula
Hurler syndrome
developmental delay, skeletal abnormalities, airway obstruction, corneal clouding, hepatosplenomegaly
Hunter syndrome
Mild Hurler syndrome and aggressive behavior, no corneal clouding
Systemic 1* carnitine deficiency
weakness, hypotonia, hypoketotic hypoglycemia, dilated cardiomyopathy
Medium-chain acyl-CoA dehydrogenase deficiency
vomiting, lethargy, seizures, coma, liver dysfunction, hyperammonemia, can lead to sudden death in infants or children
Abetalipoproteinemia
severe fat malabsorption, steatorrhea, failure to thirve, later manifesting retinitis pigmentosa, spinocerebellar degeneration due to vitamin E deficiency, progressive ataxia, acanthocytosis, lipid-laden enterocytes
Familial dyslipidemia type I hyperchlomicronemia
pancreatitis, hepatosplenomegaly, eruptive/pruritic xanthomas, creamy layer in supernatant
Familial dyslipidemias type II hypercholesterolemia
accelerated atherosclerosis [MI before age 20], tendon [achilles] xanthomas, corneal arcus
Familial dyslipidemias type III dysbetalipoproteinemia
Premature atherosclerosis, tuberoeruptive and palmar xanthomas
Familial dyslipidemias type IV hypertriglyceridemia
Hypertriglyceridemia >1000 mg/dL, can cause acute pancreatitis, related to insulin resistance
MERRF
myoclonic epilepsy with ragged red fibers
