Biochemistry Flashcards
one of the major causes of autosomal recessive SCID; excess ATP and dATP feeds back to inhibit ribonucleotide reductase and prevents DNA synthesis, decreasing lymphocyte count
adenosine deaminase deficiency
intellectual disability, self-mutilation, aggression, hyperuricemia, gout, dystonia
Lesch-Nyhan syndrome; defective purine salvage because absent HGPRT
mutation affecting non homologous end joining
ataxia telangiectasia
nucleotide excision repair defective
xeroderma pigmentosum
failure of Golgi to phosphorylate mannose residues causing proteins to be secreted extracellularly instead of trafficking to lysosome
I-cell disease
coarse facial features, clouded corneas, restricted joint movement, high plasma levels of lysosomal enzymes
I-cell disease
type I collagen
bone, skin, tendon
type II collagen
cartilage, vitreous body, nucleus pulposus
type III collagen
reticulin - blood vessels
type IV collagen
basement membrane, lens
hyper extensible skin, tendency to bleed, hyper mobile joints, berry aneurysms, organ rupture
Ehlers-Danlos; faulty collagen synthesis
brittle, kinky hair; growth retardation; hypotonia
impaired copper absorption and transport, decreased lysyl oxidase activity
Menkes disease
enlarged testes, long face with large jaw, large everted ears, autism, mitral valve prolapse
Fragile X; CGC repeat
rocker bottom feet, small jaw (micrognathia), low set ears, clenched hands, congenital heart disease
Edwards, trisomy 18
rocker bottom feet, microphthalmia, microcephaly, cleft lip/palate, holoprosencephaly, polydactyly, congenital heart disease
Patau, trisomy 13
microcephaly, intellectual disability, high-pitched crying/mewing, epicanthal folds, VSD
cri-du-chat; micro deletion of short arm of chromosome 5
elfin facies, intellectual disability, hypercalcemia (inc sensitivity to vitamin D), well developed verbal skills, no stranger danger
williams syndrome, micro deletion of long arm of chromosome 7
cleft palate, abnormal facies, thymic aplasia, cardiac defects, parathyroid aplasia
microdeletion 22q11; DiGeorge or VCFS
night blindness, dry scaly skin, alopecia, corneal degeneration, immune suppression
vitamin A deficiency
arthralgia, scaliness, alopecia, cerebral edema, pseudotumor cerebri, teratogen
vitamin A excess
confusion, ophthalmoplegia, ataxia, confabulation, personality change, memory loss
Wernicke-Korsakoff, B1, thiamine deficiency
polyneuritis, symmetrical muscle wasting
dry beriberi, B1, thiamine deficiency
high-output cardiac failure, dilated cardiomyopathy, edema
wet beriberi, B1, thiamine deficiency
cheilosis (inflammation of lips, scaling fissures at corner of mouth), corneal vascularization
B2, riboflavin deficiency
