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BCB UNIT 3
Terms in this set (51)
diBasic amino acid transporter deficiency(intestinal mucosa, renal tubulues), cystinuria +crystaluria, CYSTINE kidney stones (also lysinuria, argininuria & ornithinuria) treat diet low in CYSTEINE
Defect in large neutral amino acid transporter (LNAAT), most end up in urine except tryptophan but still gamma-glutamyl cycle not enough produced. Similar to pellagra symptoms (dermatitis, diarrhea, dementia) cerebllar ataxia, wasting muscle mass=protein deficiency. treat high protein diaten +niacin (vit. B3)
Glutathione Synthetase deficiency ( in y-glutamyl cyclase), hemolytic anemia due to glutathione, CNS problems due to poor AA uptake, metabolic acidossis buildup of 5-oxoprolinemia/uria
Gyrate Atrophy of the choroid & retina (GACR)
Ornithine Aminotransferase deficiency, bilateral circular depigmentation of chorioretinal layers loss of peripheral vision, myopia, myasthenia ab Mt of muscle, severe hyperornithemia/uria (arg/lys uria ) proline synthesis blocked as P5C synthase is feedback inhibited by ornitine.
Cystathionine B-synthase Deficiency, cysteine formation lowered, hyperhomocysteinemia/uria, hypermethionemia NO URIA, bilateral lens dislocation due to hcys-fibrillin, pectus excavatum osteoporosis/ab skeleton due to hcys-collagen. die of thromboembolic, treatment low-methionine diet, cysteine+ b12+folic acid
Phenylanine hydroxylase deficiency, mental problems, musty B.O. and urine. hyperpigmented skin, hair and iris., hyperphnylalanninemia, phenylketones (tyrosine aminotransferase), low plasma tyrosine (catecholamine of melanine) treatment low phenylalanine (avoid aspartame=equal), supplement tyrosine & tetrahydrobioterin
Tyrosine deficiency as it produces melanins
Hypermmonemia Syndrome, severe hyperglycimeia & hyperammonemia, Glutamate dehydrogenase excessively active, uncontroled NH3 from liver hyperammonema , high ATP=release insulin=hypoglycemia
Hereditary GCS deficiency (glycine cleavage system), hypotonia, myoclonic seizures, high plasma glycine levels, glycine is inhibitory neurotransmitter in the brain
Maple Syrup Disease (MSUD)
Branched chain a-Ketogacid dehydrogenase deificency, BCKaciduria, hyperaminoacidemia metabolic acidosis, treatment restriction of BCAA, VitB1, liver transplat gene therapy
Glutraric Acidemia Type I
GlutarylCoa Dehydrogenase Deficiency, high lvl of glutaric acid/ 3-hydroxyglutaric acid blood/urine metabolic acidosis, inhibit Gaba formation treatment reduce glutarigenic AA (lysine, 5-hydroxylysine-collagen, tryptophan)
Homogentisate oxidase deficiency, homogentistic acidemia/uria (tyro-phen) urine turns black, ochronosis in CT, treatment usually none non lethal
Congenital Hyperammonemia Type 2
Ornithine transcarbamoylase deficiency, postprandial vomiting, lehtargy, seuizures/ somnolence>coma,x-linked dominant, glutamate and glutamine high arginine low pyrimidine uria, high CP lvl push more synthesis via aspartate transcarbamoykase. starts with cow milk (high protein)
x-linked Sideroblastic Anemia
Deficient Ala production, heme can't be properly made accumulation of Fe2+ on sideroblast, xlinked (alas2) more common, autosomal recessive asba caused by deficiency of mt glycine transporter. or vitamin B6 deficiency, lead poisoning (inhibitor of alas2)
Congenital erythropoietic porphyria (CEP)
Uroporphyrinogen III consynthase (homozygous), urophorphyrin I (u) coproporphyrin I (uf) photosensitivity hemolity anemia.
Acute intermittent porphyria (AIP)
PBG deaminase, neurovisceral symptoms acute attacks, ala+pbg (u), porphyrins (uf) during attacks
Variegate porphyria (VP)
Phtophorphyrinogen oxidase (hetero), neurovisceral symptoms photosensitivity acute attacks, ala+ bpg (u), urophorphyrin III cophrophorphyrin II (uf) protoporphyrin IX (f)
Physiological neonatal jaundice
UDP-glucuronyl transferases I&II, liver pfroduce UGTS late in fetus moderate unconjugated hyperbilirubinemia usually disappears when liver matures, treatment phototherapy make cis = which is more polar can be secreted
Deficiency udp-glucuronyl transferase I liver severe unconjugated hyperbilirubinemia, kernicterus (bilirubin in brain) can be lethal unless liver transplant
Ryanodine receptor gain of function, muscle stiffness extra release of CO2 increase temperature and rhabdomyolosis (release of myoglobin) ab ca+ lvls
CF transmembrane conductance regulator mutant ABC transporter, production of endocrine glands of overlly thick mucous, leads to respiratory infection
Congenital Adrenal Hyperplasoa
cytochrome p450 enzyme 21-hydoxylase loss of function, needed for synthesis of glucocorticoids and mineralcorticoids, no cortisol or aldosterone=high testosterone lvl, salt-wasting, treatment oral gluco/minerocorticoids
Overproduction of adrenal glucocorticoids, weight gain, moon face, impaired glucose toleranse/diabetes high cortisol, macroedema in pituritary gland, treatment with tumour removal.
Androgen Sensitivity Syndrome
Androgen receptor deifficency, indifferent gonads, looks female born XY, amenorrhea, vagina shortened "blind sac" no female sex organs , high lvl of testosterone and estradiol.Wolffian duct and Mullerian duct both present lack of male hormone prevent disintegration of female duct (mullerian)
Inclusion-cell disease (I-cell disease)
n-acetylglucosamine phosphotransferases deficiency, "hurler-like" facial features prominent epichanthal folds, high forehead, bilateral corneal opacities, poor growth cardiomegaly, Mutation leads to prelysosomes un labeled sent to blood (high hydrolase lvl in blood) lysosomes filled with macromolecules and form dense inclusions
a-L-iduronidase deficiency, lysosome storage
Hermansky Pudlak syndrome (HPS) type 1
HPS-1 mutant gene frameshift mutation 16bp repeat causes faulty Block-3 which is guanine nucleotide exchange factor for Rab32&Rab38 import proteins involved in melanin synthesis.
Oculocutaneous Albinism, defective melanosomes, bleeding disorder- defective platelet dense body formation, Chronic enterocolitis, Intestinal-pulmonary fibrosis.
deficciancy in 1a-hydroxylase, Chronic renal disease, osteopenia, 2dary hyperthyroidism, cant form active 1a-25vitamin D in kidneys, treatment with cacitriol or ercalcitriol (not vit.D)
Vit.D resistant rickets
loss of function VDR looks like rickets hypocalcemia with tetany treat with calcitrol and Ca2+
Rickets (kids) and osteomalacia (adults)
vitD deficiency in children and adults ab soft bone
Hemorrhagic disease of the newborn
Vit.K deficiency [y-gla reduced so no proteolytic activation and decreases strong Ca2+ binding of clotting factors, (II, X, VII, IX),] from diet no intestinal bacteria to produce own causes slow blood clotting
Classic hemophilia factor VIII deficiency (anti-hemolitic factor)
Christmas disease, Royal disease, mutation factor IX Christmas factor
Oral anti-coagulant overdose
Coumadin competitive inhibitor of K reductase decreases active KH2 quinol, coumadin in meds, warfarin rat poison
Congenital Hyperammonia type 1
Carbamylophosphate syynthase 1 deficiency (E1)
PRPP synthase gain of functoin mutant, G6Pase mutant or HGRPT defficiency
Lesch-Nyhan syndrome LNS
HGPRT(hypoxanthine-guanine phosphoribosyltransferase) deficiency defective salvage pathway of purines leads to higher uric acid formation (gout),nervus system damage, mutilation (lips finger tips) X-linked recessive, treat anti-inflammatories, colchine. and allopurinol a xanthine oxidase inhibitor.
Severe combined immunodeficiency disease
Adenosine deaminase (ADA)deficiency, purine nucleotide catabolism in the degadation pathway, less severly defficient in PNP (purine nucleotide phosphorylase. destruction of T/Blymphocytes, no ADA THEN high dATP inhibits ribonucleotide reductase so dna can't be synthesized, bone marrow transplant or bovine ADA +PEG-ADA injection
UMP synthase deficiency (pyrimidines) can be in two enzymes (orotic phosphoribosyl transferase or OMP decarboxylase,) catalyze last two steps. Megaloblastic anemia and orotic acid crystalluria. treat replacement therapy with uridine
Familial Retinoblastoma (Rb)
Rb deficiency, tumor in retina, sporadic rb more common, familial only needs one somatic mutation, Rb inactive cell proliferates passes g1-S phase, bilateral many tumors in both eyes.
Li Fraumeni Syndrome
p53 deficiency (heterozygous), autosomal dominant usually patient (sarcoma) 1, and 2nd relative have cancer before 45age.
Familial Breast Cancer suceptability
BRCA1 BRCA2 deficiency (hetero)
Familial adnomatous polposis coli (FAPC)
APC deficiency(hetero), polyps in epithilium of colon, B-catenin degradation defection forms cytosolic complexes with cadherin initiate to mesenchymal transition (change cell morphology, better motility cancer cell)
Acrodermatitis enteropathica (AEZ)
SLC39A4 (zIP4) Zn transporter mutant, Periorficial and acral dermatitis, alopecia (hair loss), diarrhea Zn defficiency
Menke's disease (MKD)
ATP7A copper transporter mutant, low CU and centroplasmin in plasma (brain/liver) high in tissue intestine and kidneys, babies have hypotonia, colorless/steel coloed hair "pili tort", heat production collogane/elastin and melanin synthesis poor
Wilsons Disease (WD)
(hepatolenticular degeneration) ATP7B copper transporter mutant, Cu builds up can't be excreted decrease ceruloplasmi in liver. Parkinson disease like symptoms pshyciatric disorder "golden ring'=kayler-fleisher ring
Iron deficiency anemia
excessive loos or poor Fe intake. tired and pale. cbs hypochromic microcytic erythrocytes. low serum ferritin.
Hfe plasma protein mutant with excess iron uptake because it doesnt bind to transferrin recepter downregulating Fe uptake, hyperpigmentation liver problems, heart problems, excess Fe deposited as hemosiderin harmful to cell. Homozygous only have disease if high Fe intake!
Niacin deficiency, diarrhea, dermatitis, dementia
High MMA means B12 deficiency, if normal folic deficiency
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