Step 1: Biochemical Dz Ii

Front 1

Dark connective tissue, pigmented sclera, urine turns black on standing. May have really bad arthralgias.
- dz?
- inheritance?

Back 1

congenital deficiency of homogentisic acid oxidase in the degredative pathway of tyrosine. [Alkaptonuria / ochronosis]
- AR
- otherwise benign.

Front 2

What are the 3 things that can cause albinism?

Type of inheritance?

Back 2

tyrosinease (inability to syth melanin from tyrosine) - AR

Defective tyrosine transporters (\\tyrosine --> \\melanin)

Lack of migration of neural crest cells

Variable inheritance due to locus heterogeneity (vs. ocular albinism which is x-linked)

Front 3

Tall stature, kyphosis, lens subluxation (downward and inward), and atherosclerosis (stroke, MI)...
- check for elevated what
i/urine?
- root cause?
- 3 forms? (add tx if the form has one)

Back 3

- homocysteine
- cysteine becomes essential somehow
- cystathionine synthase deficiency
+ tx with \\Met, ^^Cys, B12, folate
- \\affinity of cystathionine synthatse for pyridoxal phosphate
+ tx with ^^B6 in diet
- homocysteine methyltransferase deficiency

Front 4

Excess cysteine in urine can lead to formation of cystine kidney stone (syctine staghorn calculi).
- cause?
- dz
- tx?

Back 4

Hereditary defect of renal tubular aa transporter for cysteine, ornithine, lysine, and arginine in the PCT of the kidneys
- Cystinuria
- AR
- acetazolamide to alkalinize the urine

Front 5

Blocked degradation of BRANCHED amino acids?
- cause?
- check for blood lvls of what?
- causes sx?

Back 5

MSUD (can't degrade Ile, Leu, and Val)
- \\a-ketoacid dehydrogenase
- ^^a-ketoacids, especially Leu.
- CNS defects, mental retardation, and death.

Front 6

Pt has Pellagra (D, D, and D) but has no deficiency in naicin (B3). - look for what in urine?
- defect?
- inheritance?

Back 6

- excess tryptophan. Tryptophan is usually converted into Niacin (B3) with the help of pyridoxine (B6).
- defect i/neurtral aa transporter on renal and intestinal epithelial cells
- AR

Front 7

Severe fasting hypoglycemia, ^^ glycogen in liver, ^^blood lactate, hepatomegaly.
- look for deficiency in what?
- expect what in uric acid lvls? why?
- lipids? why?
- what effect will Galactose, Fructose, Epi, and Glucagon have on Blood glucose?
- name of dz?

Back 7

- Glucose-6-phosphatase
- ^^uric acid (gout), because there is a lack of phosphate (it's all bound to glucose), so AMP can't --> ADP/ATP.... so it just degrades into uric acid
- hyperlipidemia b/c of the increased VLDL lvls and fatty liver
- they'll have no effect, the glucose can't get out!
- Von Gierke's dz (Type 1 glycogen storage dz)

Front 8

Cardiomegaly and systemic findings leading to early death.... can see inclusion bodies in lysosomes. What are they?
- deficiency?
- dz?

Back 8

- undigestible glycogen-like material
- lysosomal a-1,4-glucosidase (acid maltase)
- "Pompe's trashes the Pump (heart, liver, and muscle"
Type II glycogen storage dz

Front 9

Fasting hypoglycemia, ^^ glycogen in liver, mild hepatomegaly... NORMAL blood lactate lvls.
- deficiency?
- why no elevation in blood lactate?
- name of dz?

Back 9

- a-1,6-glucosidase (debranching enzyme)
- Gluconeogenesis is intact
- Cori's dz (type III)

Front 10

Muscle pains/cramps; myoglobinuria with strenous exercise. No elevation in serum lactate levels.
- check for deficiency in what?
- why do they get muscle pains?
- dz?

Back 10

- skeletal muscle glycogen phosphorylase (myophosphorylase)
- excess glycogen in muscle but they can't break it down
- McArdle's dz (Type V)

Front 11

Peripheral neuropathy of hand/feet, angiokeratomas, + cardiovascular/renal dz...
- check for buildup of what?
- deficiency in which enzyme?
- dz?
- inheritance?

Back 11

ceramide trihexoside
- a-glactosidase A
- Fabry's
- X-recessive

Front 12

What is the most common lysosomal storage dz?

Back 12

Gaucher's dz

Front 13

Hepatosplenomegaly causing pancytopenia/thrombocytopenia. Aseptic necrosis of femur. bone crises. Macrophages look weird (like they've been crumpled).
- accumulated substrate?
- deficiencient enzyme?
- dz?
- inheritance?

Back 13

- Glucocerebroside
- B-glucocerebrosidase
- Gaucher's dz
- AR

Front 14

Progressive neurodegeneration, hepatosplenomegaly, cherry-red spot on macula, foam cells, zebra bodies i/inclusions...
- buildup of what?
- deficienct enzyme?
- dz?
- inheritance?

Back 14

- Sphingomyelin
- Sphingomyelinase
- Niemann-Pick
- AR (all lysosomal storage dz are AR except Fabry's and Hunter's.)

Front 15

Progressive neurodegeneration, developmental delay, cherry red spot on macula, lysosoomes with onion skin, NO hepatosplenomegaly. NO foam cells. NO zebra bodies.
- buildup of what?
- deficienct enzyme?
- dz?
- inheritance?

Back 15

- GM2 ganglioside
- Hexosaminidase A
- Tay-Sachs
- AR

Front 16

Tay sachs, Niemann-Pick and some forms of Gaucher dz are elevated in freq in which group?

Back 16

Ashkenazi Jews.

Front 17

Peripheral neuropathy, developmental delay, optic atrophy, dloboid cells
- buildup of what?
- deficienct enzyme?
- dz?
- inheritance?

Back 17

Galactocerebroside
- galactocerebrosidase
- Krabbe's Dz
- AR

Front 18

Central and periphearl demyleination with ataxia, dementia
- buildup of what?
- deficienct enzyme?
- dz?
- inheritance?

Back 18

- cerebroside sulfate (sulfate-containing lipids)
- Arylsufatase A
- Metachromatic leukodystrophy
- AR

Front 19

Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly.
- buildup of what?
- deficienct enzyme?
- dz?
- inheritance?

Back 19

- heparan sulfatate, dermatan sulfate
- a-L-iduronidase
- Hurler's syndrome
- AR

Front 20

Mild developmental delay, can see gargolyism.... +/- airway obstruction. NO corneal clouding. AGGRESSIVE behaviour noted.
- buildup of what?
- deficienct enzyme?
- dz?
- inheritance?

Back 20

- heparan sulfate, dermatan sulfate
- iduronate sulfatase
- Hunter's (Hunters are aggressive and see clearly while aiming for X)
- X-linked

Front 21

Pancreatitis, hepatosplenomegaly, and eruptive/pruritc xanthomas (red/orange). Abdominal pain after eating fatty meal.
- look at what blood lvls?
- will any type of lipoprotein be increased?
- will pt be at elevated risk for atherosclerosis?
- name of dz?

Back 21

- elevated TG and cholesterol
- chylomicrons
- LPL deficiency, or altered apolipoprotein C-II.
- NO!!
- hyperchylomicronemia (Familial dyslipidemia type 1)

Front 22

Accelerated atherosclerosis, tendon xanthomas, and corneal rings (arcus).
- will any type of lipoprotein be increased?
- blood lvls?
- defect?
- inheritance?
- dz?

Back 22

- LDL
- cholesterol elevated
- absence of LDL receptors
- AD (dominantly causing heart dz quickly... whammo)
- Familial hypercholesterolemia (IIa)

Front 23

Pancreatitis, and elevated blood lvls of triglycerides are seen.
- defect?
- dz?

Back 23

- hepatic overproduction of VLDL
- hypertriglyceridemia (type IV of the familial dyslipidemias)

Front 24

FTT, steatorrhea, acanthocytosis, ataxia, and night blindness w/i first few months of life.
- defect in what?
- causes what?
- inheritance?
- intestinal biopsy shows what?

Back 24

- microsomal transfer protein (MTP), which is essential for packaging TG into VLDL
- hereditary inabiliyt to synthesize lipoproteins due to deficiences in apoB-100 and ApoB-48
- AR
- accumulation of TG w/i enterocytes due to inability to export absorbed lipid as chylomicrons.