First Aid Biochem Cards

Front 1

PKU

Back 1

M: Decrease in phenylalanine hydroxylase or tetrahydrobiopterin cofactor (BH4). Phenylalanine/phenylketone build up.
F: Mental retardation, growth retardation, fair skin, eczema, musty body odor.
T: No phenylalanine, give tyrosine.

Front 2

Alkaptonuria

Back 2

M: Deficiency in homogentisic acid oxidase in tryosine breakdown.
F: Dark urine on standing. Dark sclera, conx tissue. Arthralgia.

Front 3

Homocystinuria

Back 3

M:Cystathinoine synthase deficiency, or homocysteine methyltransferase def.
F: Mental retardatoin, osteoporosis, tall stature, kyphosis, lens subluxation, athersclerosis. (Vessel damage)
T: Cysteine becomes essential.

Front 4

Cystinuria

Back 4

M: Cysteine, ornithine, lysine, arginine PCT transporter defect.
F: Excess cysteine in urine lead to staghorn calculi
T: Acetazolamide to alkalinize urine.

Front 5

Maple Syrup Disease

Back 5

M: Can't degrade branched amino acids (Ile, Leu, Val) - no a-ketoacid dehydrogenase.
F: Severe CNS defects, retardation, death, maple syrup urine.

Front 6

Von Gierke's Disease

Back 6

M: Glucose-6-P def.
F: Severe fasting hypoglycemia, tons of glycogen in liver, increase in blood lactate, hepatomegaly.
GLYCOGEN STORAGE DISEASE

Front 7

Pompe's Disease

Back 7

M: Lysosomal a-1,4 glucosidase (acid maltase) def.
F: Cardiomegaly, atonia and systemic findings lead to early death.
GLYCOGEN STORAGE DISEASE

Front 8

Cori's Disease

Back 8

M: Debranching enzyme a-1,6-glucosidase def.
F: Fasting hypoglycemia, increased glycogen in liver, hepatomegaly, gluconeogenesis intact.
GLYCOGEN STORAGE DISEASE

Front 9

McArdle's Disease

Back 9

M: Skeletal muscle glycogen phosphorylase def
F: Incr. glycogen in muscle, can't break it down. Cramps, myoglobinuria with exercise.
GLYCOGEN STORAGE DISEASE

Front 10

Fabry's Disease

Back 10

M: a-galactosidase A def, ceramide trihexoside accum.
F: Peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease.
I: XR

Front 11

Gaucher's Disease

Back 11

Most common of sphingolipidoses
M: b-glucocerebrosidase def, glucocerebroside accum
F: Hepatosplenomegaly, aseptic femoral necrosis, bone crises, Gaucher Cells (crumbled-tissue-macrophaghes.)
I: AR

Front 12

Niemann-Pick Disease

Back 12

M: Sphingomyelinase def, sphingomyelein accum
F: Progressive neurodegeneration, hepatosplenomegaly, cherry-red spot on macula, foam cells
I: AR

Front 13

Tay-Sachs Disease

Back 13

M: Hexosaminidase A def, GM2 ganglioside accum
F: Progressive neurodegeneration, development delay, cherry-red spot, lysosomes with onions skin
I: AR

Front 14

Krabbe's Disease

Back 14

M: Galactocerebrosidase def, galatocerbroside accm
F: Peripheral neuropathy, developmental delay, optic atrophy, globoid cells
I: AR

Front 15

Metachromatic Leukodystrophy

Back 15

M: Arylsulfatase A dec, cerebroside sulfate accum
F: Central and peripheral demyelination with ataxia/dementia
I: AR

Front 16

Hurler's Syndrome

Back 16

M: a-L-iduronidase def, heparan sulfate, dermatan sulfate accum
F: Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
I: AR

Front 17

Hunter's syndrome

Back 17

M: iduronate sulfatase def, heparan sulate and dermatan sulfate accum
F: Mild Hurler's, aggressive behavior, no corneal clouding
I: XR

Front 18

Lead poisoning

Back 18

Porphyria
Affects ferrochelatase and ALA dehydratase
Coprophorphyrin and d-ALA accumulates
Abdominal pain, microcytic anemia, neurological problems.

Front 19

Acute Intermittent Porphyria

Back 19

Porphobilinogen deaminase is deficient.
Prophobilinogen/d-ALA accumulates.
Painful abdomen, pink urine, polyneuropathy, psych disturbances.

Front 20

Porphyria Cutanea Tarda

Back 20

Uroporphyinogen decarboxylase deficiency
Uroporphyrin accumulates.
Tea colored urine, photosensitive lesions.

Front 21

Familial Dylipidemia

Back 21

Type 1 (hyperchylomicronemia): Lipoprotein lipase or apolipo C-II deficiency. Incr TG, cholesterol in blood
Type IIa (hypercholesterolemia): Decr LDL receptors, causes incr cholesterol in blood
Type IV (hyperTGemia): Hepatic overproduction of VLDL, increased TG in blood

Front 22

Major apolipoproteins

Back 22

A-1: Activates LCAT
B-100: Binds LDL receptor
C-II: Cofactor for lipoprotein lipase
B-48: Mediates chylomicron secretion
E: Mediates remnant uptake

Front 23

Andersen's Disease

Back 23

M: Branching enzyme def in liver spleen (glucosyl-4,6-transferase)
F: Hepatomegaly, cirrhosis, death 1-2 years
GLYCOGEN STORAGE DISEASE

Front 24

Hers' Disease

Back 24

M: Glycogen phosphorylase def in liver
F: Similar, less severe, than Von Gierke's
GLYCOGEN STORAGE DISEASE

Front 25

Adult Polycystic Kidney Disease

Back 25

Autosomal Dominant. Always bilateral, massive enlargment of kidneys with cysts. Pts present with pain, hematuria, hematemesis, prog renal failure. 90% due to APKD1 mutation (16). Liver dz, berry aneurysms, mitral valve prolapse.

Front 26

Marfan's syndrome

Back 26

AD. Fibrillin gene mutation - conx tissue dissorder.
Skeletal problems:tall, with long extremities, pectus excavatum, hyperextensive joints, arachnodactyly
CV: aortic incompetence, dissections, floppy mitral valve.

Front 27

Neurofibromatosis

Back 27

Type 1 (von Recklinghausen's): Cafe au lait spots, neural tumors, Lisch nodules (pigmented iris hamartomas). Skeletal disorders, optic pathway gliomas, pheos, and tumor susceptiblity. Long arm of chromosome 17.
Type 2: Bilateral acoustic neruoma, juvenile cataracts, NF2 gene on chromosome 22.

Front 28

Tuberous sclerosis

Back 28

AD. Facial lesions, hypopigmented "ash leaf spots" on skin, cortical and retinal hamartomas, seizures, mental retardation, renal cysts and renal angiomyolipomas, cardiac rhabdomyomas, incr incidence of astrocytomas. Incomplete penetrance, variable.

Front 29

von-Hippel-Lindau

Back 29

Hemangioblastomas or retina/cerebellum/medulla; about half get bilateral renal cell carcinoma and other tumors.
Assoc with deletion of VHL gene on chromosome 3p.

Front 30

Achondroplasia

Back 30

AD cell-signaling defect of fibroblast growth factor receptor 3. Dwarfism. Assoc with advanced paternal age.

Front 31

Autosomal recessive DZ

Back 31

cystic fibrosis, albinism, a1-antitrypsin, PKU, thalessmia, sickle cell, glycogen storage disease, infant polycystic kidney dz, hemochromatosis, sphingos (not Fabrys) mucos (Not Hunters)

Front 32

X-Linked Dz

Back 32

Bruton's, Wiskott-Aldrich, Fragile X, G6PD, Ocular albinism, Lesch-Nyann, Duchenne's, Hemophilia A/B, Fabry's, Hunter's

Front 33

Fragile X

Back 33

X-linked defect affects methylation and expression of FMR1 gene. Associated with chromosomal breakage. 2nd most common cause of genetic retardation after Downs. Macro-orchidism, long face/jaw, everted ears, autism. Triplet Disorder

Front 34

Trinucleotide Repeat Dz

Back 34

Huntington's, myotonic dystrophy, Friedrich's ataxia, fragile X

Front 35

Down Syndrome

Back 35

Trisomy 21
Increase with maternal age, 95% a nondisjunction. Decr a-fetoprotein in amniocentesis. ALL, Alzheimers risk, Die at 45-50, retardation; flat facial profile, epicanthal folds; septum primum ASD defects; Simian Crease; Gap between first two toes

Front 36

Edwards' Syndrome

Back 36

Trisomy 18
Less than one year, severe retardation; prominent occiput, micrognathia, low-set ears, heart defects; clenched hands; rocker bottom feet

Front 37

Patau's Syndrome

Back 37

Trisomy 13
Less than one year, severe retardation, Microphthalmia, microcephaly, cleft lip/palate; heart defects; polydactyly; rocker-bottom feet

Front 38

Galactosemia

Back 38

Absence of galactose-1-p uridyltransferase. Glactitol, tox substance, accum. Cataracts, hepatosplenomegaly, mental retardation. Galactokinase def causes similar problems. Remove lactose/galactose from diet.

Front 39

Fructose intolerance

Back 39

Aldolase B def, F-1-P accum which eats up free phosphate. Hypoglycemia, jaundice, cirrhosis, vomiting.
Essential fructosuria - fructikinase def, benign, fructose in pee.