Biochemistry: DISEASES Flashcards
secondary structure defect of Alzheimer’s?
b-pleated sheet
amyloid
HBA1c cut off in pregnancy for diagnosis?
> 6.5%
HBA1c goal for non-pregnant
7%
diagnosis?
- cherry pink
- treatment: 100% oxygen
carboxyhemoglobin
diagnosis?
- chocolate cyanosis
- O2 sat of 85%
- oxidized form of hgb has increased affinity to cyanide
- treatment: methylene blue
methemoglobin
diagnosis?
- intrinsic defect of RBC
- mutation in ankyrin
- Jaundice, Anemia, Splenomegaly
- dx: osmotic fragility test
- tx: splenectomy
hereditary spherocytosis
diagnosis?
- glu –> valine
- anemia, painful crises, tissue anoxia
- protective against malaria
sickle cell disease
diagnosis?
- glu –> lysine
- mild hemolytic anemia
hemoglobin C disease
diagnosis?
- accumulation of Hb Bart, Hb F and b-chain precipitation
- readily appears at birth
Alpha Thalassemia (Chromosome 16)
diagnosis?
- accumulation of Hb Bart and a-chains
- appears at 6months
Beta Thalassemia (Chromosome 11)
manifested as Cooley Anemia
Beta Thalassemia
Collagen Defect? Ehler Danlos Syndrome
type 3
Collagen Defect? Alport Syndrome
type 4
Collagen Defect? osteogensis imperfecta
type 1
Collagen Defect? epidermolysis bullosa
type 7
diagnosis?
- copper deficiency
- kinky hair, growth retardation
menkes disease
diagnosis?
- hyperextensibility of skin
- abnormal tissue fragility
- increased joint mobility
- intracranial aneurysms - most serious manifestation
ehlers-danlos syndrome
diagnosis?
- hydroxylation of collagen
- vitamin C deficiency
scurvy
diagnosis?
- brittle bone syndrome
osteogenesis imperfecta
diagnosis?
- glomerular & cochlear BM manifestations:
HEMATURIA + HEARING LOSS
alport syndrome
diagnosis?
- skin that breaks and with blisters after minor trauma
epidermolysis bullosa
diagnosis?
- mutation in fibrillin gene; autosomal dominant
- aortic dilatation
- ectopia lentis (upward direction)
marfan syndrome
diagnosis?
- associated with panacinar emphysema
a-1 antitrypsin deficiency
diagnosis
- glucose 6 phosphatase deficiency
- hyperuricemia
von gierke disease
glycogen storage disease type 1a
liver phosphorylase deficiency
hers disease
glycogen storage disease type 6
PFK deficiency
Tarui disease
glycogen storage disease type 7
diagnosis?
- (a-glucosidase) lysosomal acid maltase deficiency
- muscle dystrophy
pompe disease
glycogen storage disease type 2
debranching enzyme deficiency
cori disease
glycogen storage disease type 3a
branching enzyme deficiency
andersen disease
glycogen storage disease type 4
muscle phosphorylase deficiency
mc ardle syndrome
glycogen storage disease type 5
diagnosis?
- most common disease producing enzyme abnormality in humans?
- decreased NADPH in PPP
- pathology: heinz bodies, bite cells
- precipitated by: sulfonamides, primaquine, chloramphenicol, fava beans
Glucose 6-phosphate dehydrogenase deficiency
diagnosis?
- deficiency in NADPH oxidase
- manifested with severe, persistent and chronic pyogenic infections
chronic granulomatous disease
diagnosis?
- most common inborn error of FA oxidation
- severe hypolgylcemia
- SIDS
- tx: avoid fasting
Medium-chain fatty acyl coa dehydrogenase
akee tree: toxin hypoglycin
JAMAICAN VOMITING SICKNESS
accumulation of phytanic acid
REFUSM DISEASE
diagnosis?
- cerebrohepatorenal syndrome
- inherited absence of peroxisomes
- very long chain FA
ZELLWEGER SYNDROME
very long chain FA accumulated in brain, adrenals & testes
- neurodegeneration, adrenocortical insufficiency, hypogandism
ADRENOLEUKODYSTROPHY
congenital adrenal hyperplasia - what specific deficiency?
- hypotension, hypolgycemia, virilization
21 - a - hydroxylase deficiency
- most common CAH (90%)
congenital adrenal hyperplasia - what specific deficiency?
- low renin HYPERTENSION, hypoglycemia, virilization
11 - b1 - hydroxylase deficiency
diagnosis?
- low LDL, low HDL
- no increased risk of coronary artery disease
TYPE 1
familial lipoprotein lipase deficiency
- lipoprotein lipase or apo C2
diagnosis?
- high VLDL, cholesterol
- associated with type 2 dm, obesity, alcoholism
TYPE 4
familial hypertriacylglycerolemia
- OVERPRODUCTION OF LDL
Type 3 hyperlipoproteinemia defect?
abnormal apo E
- familial dysbetalipoproteinemia
Type 2a hyperlipoproteinemia defect?
defective LDL receptor
- familial hypercholesterolemia
most common hereditary hyperammonemia
ornithine transcarbomylase deficiency
step2
most severe hereditary hyperammonemia
carabomyl phosphate synthetase-1 deficiency
step1
accumulation of homogentisic acid
alkaptonuria
- ochronosis (CT is dark)
defective melanin synthesis
albinism
defect in methionine degradation
homocystinuria
- high plasma and urinary levels of homocysteine and methionine
- low levels of cysteine
- ectopia lentis (downward)
- faulty bone development and osteoporosis
**MI + stroke in child and young adults
defect of renal tubular AA transport in PCT of kidneys
Cystinuria C - cystine O - ornithine L - lysine A - arginine
methylmalonyl coa mutase deficiency affects what AA?
VIT Meth valine isoleucine threonine methionine
MSUD AA?
LIV
Leucine
Isoleucine
Valine
LEAD POISONING inactivates what enzymes?
ALA dehydratase & ferrochelatase
HGPRT enzyme deficiency
Lesch-Nehan Syndrome H - HYPERURICEMIA G - GOUT P - PISSED OFF (SELF MUTILATION) R - RETARDATION T - DYS(T)ONIA
adenosine deaminase deficiency
SCID
diagnosis?
- a- L iduronidase deficiency
- AR
- coarse facial features, mental retardation
- corneal clouding
HURLER SYNDROME
Mucopolysaccharidoses - 1
diagnosis?
- iduronate sulfatase
- X-linked
- coarse facial features, mental retardation
- NO corneal clouding
HUNTER SYNDROME
Mucopolysaccharidoses - 2
Mucopolysaccharidose disorder that presents with HYPERACTIVITY
SANFILIPPO SYNDROME
Mucopolysaccharidoses - 3
Mucopolysaccharidose disorder that presents with NO CNS INVOLVEMENT
MORQUIO SYNDROME
Mucopolysaccharidoses - 4
7 GLYCOGEN STORAGE DISEASE?
Very Pumped CORe AND Muscle Herr Tar 1 - VON GIERKE 2 - POMPE 3 - CORI 4 - ANDERSEN 5 - MC ARDLE 6 - HERS 7 - TARUI
diagnosis?
(enzyme deficiency + lipid accumulating)
HEXOSAMINIDASE A2 + GM2 GANGLIOSIDE
TAY SACHS DISEASE
- cherry red spot on macula BUT NO HEPATOMEGALY
- seen in ashkenazi jews
- patho: lysosomes with onion skin
(Mnemonic: TAY - HEX - GANG)
diagnosis?
(enzyme deficiency + lipid accumulating)
CERAMIDASE + CERAMIDE
FARBER DISEASE
- lipids in joints
- hoarse cry
(Mnemonic: FARBER - CERAMIDE)
diagnosis?
(enzyme deficiency + lipid accumulating)
B-GALACTOSIDASE + GALACTOSYLCERAMIDE
KRABBE DISEASE
Mnemonic: GRABE, GAL - GAL
diagnosis?
(enzyme deficiency + lipid accumulating)
SPHINGOMYELINASE + SPHINGOMYELINE
NIEMANN PICK DISEASE
- cherry red spot on macula
- patho: FOAM CELLS
(Mnemonic: Niemann Sphing)
diagnosis?
(enzyme deficiency + lipid accumulating)
B-GLUCOSIDASE + GLUCOSYLCERAMIDE
GAUCHER DISEASE
- most common lysosomal storage disease
- patho: CRUMPLED TISSUE PAPER MACROPHAGES
(Mnemonic: GGGluc)
diagnosis?
(enzyme deficiency + lipid accumulating)
A-GALACTOSIDASE + GLOBOTRIASYLCERAMIDE
FABRY DISEASE
- reddish purple skin rash
- kidney & heart failure
- XL recessive
(Mnemonic: Fab Gal Globe)
diagnosis?
(enzyme deficiency + lipid accumulating)
ARYLSULFATASE A + 3 SULFOGALAVTOSYLCERAMIDE
METACHROMATIC LEUKODYSTROPHY (MLD)
- progressive paralysis, cognitive demyelination
- patho: SULFATIDES
(Mnemonic: MLD - Sulfa)
5 mucopolysaccharidoses
H-H-S-M-S
(hot-hot sex, more sex!)
(hot-hot sex, more sex!) MPS1 - Hurler MPS2 - Hunter MPS3 - Sanfilippo MPS4 - morquio MPS5 - Sly
