Biochem Dzs Flashcards
1
Q
Course facial features, cluded corneas, restricted joint movement and high plasma levels of lysosomal enzymes? Cause? Prognosis?
EM findings?
A
I-cell dz. No mannose-6-phosphate added in golgi. Fatal in childhood.
Many vaculoes
2
Q
Recurrent pyogenic infections, partial albinism and peripheral neuropathy. Mutation? Histo?
A
Chediak-Higashi. Mutation in mucrotubule polymerization. From LYST mutation (lysosomal trafficking receptor).
3
Q
Pt with hyperextensible skin, easy bleeding, hypermobile joints. Can lead to what severe problems?
A
Ehlers Danlos. Defect in type 1 or 4 collagen. Berry aneurysms and organ rupture
4
Q
Pt with nephritis, deafness and vision disturbances? Defect in?
A
Alport syndrome. Defect in collage type 4.
5
Q
child with mental retardation, hyperphagia, obesity, hypogodadism, hypotonia. Defect?
A
Prader-Willi. Parental allel not expressed (“need dad for balls”)
6
Q
Mental retardation, seizures, ataxia, inappropriate laughter?
A
Angelmans (materal allele not expressed)
7
Q
Rickets like with phosphate wasting at PCT. heredity?
A
Hypophosphatemic rickets. X-linked dominant
8
Q
Red ragged fibers?
A
Mitochondrial Dz
9
Q
ADPKD. chromosome?
A
16
10
Q
Familail adenomatous polyposis. chromosome?
A
5
11
Q
Pt with tendon xanthomas and MI before 20?
A
Familial hypercholesterolemia
12
Q
telangiectasia, epistaxis, ateriovenous malfomations?
A
Osler weber rendu
13
Q
decreased GABA and ACh in brain.
- chromosome?
A
Huntingtons. 4
14
Q
darkened iris harmartomas in eyes? Chromosome?
A
Lich nodules - NF1. chromosome 17
15
Q
Bilateral acoustic schawnomas - chromosome?
A
NF2. 22
16
Q
Angiomyolipomas in kidney, retinal hamartomas, facial lesions?
A
Tuberous sclerosis
17
Q
Hemangiomas and bilateral renal cell carcinomas?
A
VHL
18
Q
X-linked recessive disorders?
A
Be Wise, Fool's GOLD Heeds silly HOpe Brutons agammaglobulinemia wiskott-aldrich fabry's G6PD Ocular albinism Lesch0Nyhan Duchennes/Beckers Hunters Hemophilias OTC deficiency
19
Q
Phe 508 deletion. Chromosome?
A
CF. 7
20
Q
Child with increased in CPK. Check for?
A
muscular dystrophy
21
Q
Large testies, ears, jaw. gene? Heart problem?
A
Fragile X. FMR1. MVP
22
Q
trinucleotide repeats? (repeat and chromosome)
A
X-Gfs First Aid Helped Ace My Test Fragile X - cGg Friedreich's ataxia - GAA (chromosome 9) huntingtons - cAg - 4 Myotonic dystrophy - cTg - 19
23
Q
Myotonic dystrophy. Problem with what protein?
A
My-D protein kinase
24
Q
amniotic fluid show decreased aFP and estriol and increased B-HCG and inhibin A. 2 Causes?
A
Down syndrome. Trisomy 21 and robertsonian translocation
25
Down a-FP, B-HCG, estriol
| normal inhibin A.
edward's syndrome - trisomy 18
26
Down B-HCG, down PAPP-A. Sx?
```
Patau's (trisomy 13).
cleft-Palate
holoProcencephaly
Polydactyly
CycloPs
PDA
PKD
```
27
Crying/mewing child, epicanthal folds. Defect? Heart?
deletion of short arm of 5. VSD
28
bad development of 3rd and 4th pouch?
```
Digeorges and velocardiofacial.
CATCH-22
Cleft lip
abnormal facies
thymic aplasia
Cardiac defects
HypoCa
```
chromosome 22q11 deficiency
29
Edema, anemia, asities from malnutrition?
Kwashiokor
30
Muscle wasting, edema from malnutrition?
marasmus
31
Anosmia and no secondary sex characteristics. Defect?
Kallman syndrome. GnRH secreting cells do not migrate to proper location in hypothalamus. (no GnRH secretion)
32
Cystic hygroma?
neck mass consisting of lymphocytes and connective tissue found in turner's
33
Increased lactate in blood. Lethargic, seizures, mental retardation? Genetics?
Pyruvate dehydrogenase deficiency. X-linked Dominant
34
Vomiting, rice water stools and garlic smelling breath? Mech?
Arsenic poisoning. Inhibits lipoic acid (and pyruvate dehydrogenase). Can also block B1 and resemble beriberi.
35
Child with ataxia, abnormal eye movements. Increased lactic acid?
Special diet?
Pyruvate dehydrogenase
Only ketogenic AAs (leucine and lysine)
36
Child with exercise intolerance, muscle craps and burgundy urine?
Tarui (decreased phosphofructokinase 1)
or
McArdle's
37
Pt with hypoglycemia, jaundice, and vomiting after drinking juice? Deficiency in what enzyme?
Fructose intolerance. Aldose B
38
Infant has trouble tracking objects and doesn't smile. Increased sugar in urine. Deficiency?
Galactokinse deficiency
39
Infant with cateracts, PO4 depletion,
also failure to thrive, jaundice, hepatomegaly,? Deficiency?
Classic galactosemia. Galactose-1-P uridyltransferase
40
Child with exzema and musty odor, retardation, seizures. Diet?
PKU. No Phe
41
Infant with microcephaly, mental retardation, congenital heart defects. If due to maternal nutritional defect, cause?
Maternal PKU
42
Brown sclera, urine turns black. Cause?
Alkaptonuria. Buildup ot homogentisic acid because improper tyrosine breakdown
43
Albinism - causes?
1 defect in tyrosinase
2 defective tryosine transporters
3 bad neural crest migration
44
Tall Pt with downward and inward gaze, history of stroke and MI, mental retardation. Causes?
homocystinuria
1. Cytathionine synthase deficiency
2. decreased affinity for B6
3. B12 deficiency
45
Cystinuria?
defect in transporter for cyseine, ornithine, lysine, arginine. Risk of stones
46
Pt with pellegra. W in urine?
Hartnup. Defective W absorption in PCT and gut
47
Hepatomegaly, lactate in blood, xanthomas, seizures, severe hypoglycemia. Defect?
Can also develop?
Von Gierke's disease. Glucose-6-Phosphatase
Gout/hyperurecimia and platelet dysfunction
48
Doll's face. Tx?
Von Gierke's disease. Glucose, glucagon, E
49
Infant with cadiomegaly and large tongue. Normal glucose. Glycogen storage Dz? Defect? Histo?
Pompe's. Defect in lysosomal a-1,4 gluosidase. Glucose accumulation in liver lysozomes
50
Infantile cirrhosis and failure to thrive. Glycogen storage dz? Defect?
Andersons. Defect in branching enzyme
51
Painful muscle cramps and peeing red after exercise? Defect?
Tx?
McArdle's. Skeletal muscle glycogen phosphorylase
Ingestion of sucrose before exercise
52
Baby with little growth, fasting hypoglycemia and hepatomegaly? defect?
Her's. Hepatic glycogen phosphorylase
53
Child with with peripheral neuropathy, renal disease and small discolored spots.
Defect and accumulated substance?
Farby's (only glycogen storage disorder with renal dz) a-galactosidase A and ceramide trihexoside
54
Child with Hepatosplenomegaly, aseptic necrosis of femur
Defect and accumulated substance?
Gaucher's. B-glucocerebrosidase. Glucocerebroside
55
Child with Macrophages that looks like crumpled up tissue paper?
Defect and accumulated substance?
Gaucher's. B-glucocerebrosidase. Glucocerebroside
56
Child with Hepatosplenomegaly and cherry red spot?
Defect and accumulated substance?
Neimann-Pick Dz. Sphingomyelinase. Shingomylin
57
Child with Cherry red spot, neurodegeneration. Normal abdominal exam
Defect and accumulated substance?
Tay-Sachs (no hepatosplenomegaly). Hexosaminidase A. GM2 ganglioside
58
3 year old. Abnormal startle, decreased motor skills. Cherry red spot?
Defect and accumulated substance?
Tay-Sachs (no hepatosplenomegaly). Hexosaminidase A. GM2 ganglioside
59
Child with Peripheral neuropathy, developmental delay, irritable with optic atrophy?
Defect and accumulated substance?
Krabbe's. Galactocerebrosidase. Galactocebroside.
60
Child with ataxia, central and peripheral demylination.
Defect and accumulated substance?
Metachromatic leukodystrophy. Arylsulfatase A. Cerebroside sulfate.
61
child with hepatosplenomegaly, cateracts, hepatoslenomegaly. Gargoyle like face.
Defect and accumulated substance?
Hurlers. a-L-iduronidase. Heparan sulfate, dermatan sulfate
62
Aggressive child with gargoyle like face. Normal eyes. Pebbly skin lesions?
Defect and accumulated substance?
Hunters. Iduronate sulfatase. Heparan sulfate, dermatan sulfate.
63
Pt with weakness, hypotonia, hypoglycemia without ketones. Deficiency in what transporter?
Carnitine deficiency (no LCFA breakdown in mito)
64
Starvation. Sources of energy?
```
ATP (secs)
Creatine (secs)
Glycogen (12 hours)
Liver gluconeogenesis (12-18 hours)
Ketones from B-oxidation (18 hours to 3 days)
Protein degradation and death (3+ days)
```
65
Abdominal pain, xanthomas. Hepatosplenomegaly? Increased levels of? Defect?
I-hyperchyomicronemia. No lipoprotein lipase. increased chylomicrons, TG, cholesterol
66
See rings in eye, tendon xanthomas, atherosclerosis? Defect? Increased levels of?
IIa familial hyperchlesterolemia. No LDL-R. too much LDL, cholesterol
67
Spots on eyes, pancreatitis, hepatomegaly. Affects every generation? Defect? Increased levels of?
IV - familial hyperchlesterolemia. Increased VLDLs.
68
Infant with failure to thrive, steatorrhea, ataxia, acanthocytosis. Defect? Histo?
Abetalipoproteinemia. Microsomal tryglyceride transder protein (MTP gene) - decreased B48 and B100. Fat in enterocytes.
69
Pt with pale spots on eyes, gap between 1st and 2nd toes, deafness and mental retardation. Later in life at risk for?
Down syndrome. ALL and Alzheimers
70
Pt with thin, fragile skin and a hx of aortic aneurysms is pregnant. Danger>
Elhers-Danlos. Worried about uterine rupture
71
12 year old mentally retarded boy with bilaterally dislocated lenses, and tall thin body? Should go on what diet? Furture risk for?
Homocystinuria. Go on a high cystine, low methionine diet (cystine has become essential).
Cardiovascular disease and osteoporosis
72
Pt with course facial features, cateracts and umbilical hernia with skeletal abnormalities. EM will show?
Hurlers. Swollen lysosomal vesicles. Accumulation of partially degraded polsaccharides.
73
Pt with repeated sinus infections and point of maximal impulse at the right fifth intercosatal margin. Specific defect?
Kartageners. Dynein
74
Pt with incresingly irratible child. "Orange sand" in diapers.
Lesch-Nyhan. Uric acid results in crystal urine.
75
Pt with increasing SOB. Alcoholic. Tingling and burning in legs. Bilateral rales and pitting edema. Enlarged cardic silhouette.
Beriberi (B1 deficiency)
76
6 year old with vision problems and mental retardation dies of stroke.
Vitamin that should have been given?
Homocysteinuria. B6
77
Pt with mitral valve replacement. Gets endocarditis, catalase-positive and coagulase-negative. Tx?
S. epidermis endocarditis - Vancomycin
78
Insulin - receptor? Receptor then does?
TK receptor. Activates potein phosphatase 1
79
MAP-Kinase vs JAK-STAT pathway?
GFs vs GH, polactin, inflam mediators/cytokines, prolactin (PIG)
