Diseases From Biochem Chapter

Front 1

Adenosine Deaminase deficiency

Back 1

Purine salvage deficiency: causes excess AMP, causein ATP/dATP imbalances. Negative feedback of ribonucleotide reductase - Prevents DNA synthesis. lowers Lymphocyte count. major cause of SCID (severe combined immunodeficiency).

Front 2

lesch Nyhan syndrome

Back 2

defective purine salvage, caused by absent HGPRT (Hypoxanthine to IMP). instead there is more hypoxanthine which turns into uric acid.

causes Hyperuricemia, Gout, Pissed off, Retardation, DysTonia.

Treatment: allopurinol or fuxostat.

Front 3

Inclusion cell disease (mucolypidosis 1)

Back 3

Lysosomal storage disorder. failure of the golgi to phosphorilate mannose, causing proteins to go to cytoplasm rather than to lysosome. Coarse face, clouded corneas, restricted joint movements, high lysosomal enzymes in plasma. absent or dysfunctional SRP.

Front 4

Ehlers Danlos syndrome

Back 4

Vascular type shows deficiency in type 3 collagen (needed for vascular tissue). the problem is with extracellular collagen cross-linking. connected to berry aneurysms aortic aneurysms and rupture.

Front 5

Alport syndrome

Back 5

inherited defect in type 4 collagen (needed for BM). Thinning of glomerular BM, presents as Hematurea, Hearing loss and occular disturbances.

Front 6

Osteogenesis imperfecta

Back 6

low production of collagen type 1. AD. multiple bone fractures, blue sclera (underlying choroidal veins) and hearing loss (bones in the ear).

Front 7

Menkes disease

Back 7

XR, problem with copper absorbtion due to defective menkes protein (ATP7A). reduced activity of lysis oxidase, results in brittle "kinky" hair, growth retardation and hypotonia.

Front 8

cystic fibrosis

Back 8

AR, defect in CFTR gene on chromosome 7, commonly deletion off phe508. Misfolded protein (Cl channel in lungs, sweat glands) cuases high intercellular Cl, leading to absorbtion of Na and H2O. thick mucus. diagnosed with sweat Cl concentration over 60.

pulmonary infections, Hypokalemia (K lost in kidney due to ECF loss of Na), infertility in males, nasal polyps, steatorhea.

Front 9

Duchenne

Back 9

Xlinked, deleted dystrophin. weakness begins in pelvic girdle and proceeds to extremities. pseudohypertrophy of calves,

Front 10

Becker

Back 10

Xlinked, non frameshift insertion in dystrophin gene. less severe than duchenne. onset in adolescence.

Front 11

Myotonic dystrophy type 1

Back 11

(CTG) expansion. repeat at the DMPK gene. myotonia, cataracts, testicular atrophy, frontal balding, arrythmia (My tonus, My Testis, My ticker).

Front 12

Fragile X

Back 12

X linked, affecting the methylation and expression of FMR1 gene, 2nd most common intellectual disability reason. CGG expansion

eXtra large testis, ears and jaw, autism, mitral valve prolapse.

Front 13

Huntington

Back 13

Degeneration of GABAergic neurons in caudate nucleus of basal ganglia. AD. CAG repeat, with expansion in spermatogenesis. Chorea with dementia and depression.

Front 14

Freidrich ataxia

Back 14

Degenerative disorder of cerebellun and spinal cord. GAA repeat in Frataxin gene (mitochondrial iron regulation). Hypertrophic cardiomyopathy.

Front 15

Cri-du-chat

Back 15

deletion of chromosome 5 short arm. microcephaly, intellectual disability, high pitched mewing. VSD.

Front 16

Williams disease

Back 16

Microdeletion of long arm of chromosome 7. Elfin face, extremely friendly. hypercalcemia. intellectual disability.

Front 17

Down syndrome

Back 17

trisomy 21. Duodenal atresia, Hirschprung, heart problems (ASD), early onset Alzheimers. increase risk of ALL and AML (especially acute megakarioblastic leukemia). advanced maternal age. increased betaHCG and inhibin A.

Front 18

Edwards disease

Back 18

trisomy 18. severe intelectual disability, low set Ears, death within 1 year of birth. QUAD screen all low (alphaFetoprotein, betaHCG, estriol and inhibin).

Front 19

Patau syndrome

Back 19

trisomy 13. Cleft lip/palate, holoProsencephaly, Polydactyly. heart problems, death within 1 year.

Nuchal transluscency high.

Front 20

22q11 deletion syndrome

Back 20

CATCH22 - cleft palate, abnormal facies, thymic dysplasia, cardiac defects and Hypocalcemia. 3rd and 4th pharyngeal pouch failure.

Digeorge and Velocardiofacial.

Front 21

1- Hyperchylomicronemia

Back 21

increased chylomicrons, TG and cholesterol. AR.

LPL deficiency or altered ApoC2 (cofactor). causes pancreatitis, erruptive xanthomas, creamy supernatant. no increase risk for artherosclerosis.

Front 22

2a - familial hypercholesterolemia

Back 22

increased LDL and cholesterol. AD. fdefective/absent LDLr. Heterozygotes have cholesterol over 300, Homozygotes (rare) have over 700. Achilles xanthomas, corneal arcus (arc around iris. Increased risk for Artherosclerosis (MI before 20).

Front 23

4- hypertriglyceridemia

Back 23

increased VLDL, TG. AD. Hepatic overproduction of VLDL. Hyeprtrigliceridemia (>100) can cause acute pancreatitis.