Biochem Dzs Flashcards
Course facial features, cluded corneas, restricted joint movement and high plasma levels of lysosomal enzymes? Cause? Prognosis?
EM findings?
I-cell dz. No mannose-6-phosphate added in golgi. Fatal in childhood.
Many vaculoes
Recurrent pyogenic infections, partial albinism and peripheral neuropathy. Mutation? Histo?
Chediak-Higashi. Mutation in mucrotubule polymerization. From LYST mutation (lysosomal trafficking receptor).
Pt with hyperextensible skin, easy bleeding, hypermobile joints. Can lead to what severe problems?
Ehlers Danlos. Defect in type 1 or 4 collagen. Berry aneurysms and organ rupture
Pt with nephritis, deafness and vision disturbances? Defect in?
Alport syndrome. Defect in collage type 4.
child with mental retardation, hyperphagia, obesity, hypogodadism, hypotonia. Defect?
Prader-Willi. Parental allel not expressed (“need dad for balls”)
Mental retardation, seizures, ataxia, inappropriate laughter?
Angelmans (materal allele not expressed)
Rickets like with phosphate wasting at PCT. heredity?
Hypophosphatemic rickets. X-linked dominant
Red ragged fibers?
Mitochondrial Dz
ADPKD. chromosome?
16
Familail adenomatous polyposis. chromosome?
5
Pt with tendon xanthomas and MI before 20?
Familial hypercholesterolemia
telangiectasia, epistaxis, ateriovenous malfomations?
Osler weber rendu
decreased GABA and ACh in brain.
- chromosome?
Huntingtons. 4
darkened iris harmartomas in eyes? Chromosome?
Lich nodules - NF1. chromosome 17
Bilateral acoustic schawnomas - chromosome?
NF2. 22
Angiomyolipomas in kidney, retinal hamartomas, facial lesions?
Tuberous sclerosis
Hemangiomas and bilateral renal cell carcinomas?
VHL
X-linked recessive disorders?
Be Wise, Fool's GOLD Heeds silly HOpe Brutons agammaglobulinemia wiskott-aldrich fabry's G6PD Ocular albinism Lesch0Nyhan Duchennes/Beckers Hunters Hemophilias OTC deficiency
Phe 508 deletion. Chromosome?
CF. 7
Child with increased in CPK. Check for?
muscular dystrophy
Large testies, ears, jaw. gene? Heart problem?
Fragile X. FMR1. MVP
trinucleotide repeats? (repeat and chromosome)
X-Gfs First Aid Helped Ace My Test Fragile X - cGg Friedreich's ataxia - GAA (chromosome 9) huntingtons - cAg - 4 Myotonic dystrophy - cTg - 19
Myotonic dystrophy. Problem with what protein?
My-D protein kinase
amniotic fluid show decreased aFP and estriol and increased B-HCG and inhibin A. 2 Causes?
Down syndrome. Trisomy 21 and robertsonian translocation
Down a-FP, B-HCG, estriol
normal inhibin A.
edward’s syndrome - trisomy 18
Down B-HCG, down PAPP-A. Sx?
Patau's (trisomy 13). cleft-Palate holoProcencephaly Polydactyly CycloPs PDA PKD
Crying/mewing child, epicanthal folds. Defect? Heart?
deletion of short arm of 5. VSD
bad development of 3rd and 4th pouch?
Digeorges and velocardiofacial. CATCH-22 Cleft lip abnormal facies thymic aplasia Cardiac defects HypoCa
chromosome 22q11 deficiency
Edema, anemia, asities from malnutrition?
Kwashiokor
Muscle wasting, edema from malnutrition?
marasmus
Anosmia and no secondary sex characteristics. Defect?
Kallman syndrome. GnRH secreting cells do not migrate to proper location in hypothalamus. (no GnRH secretion)