kidneys, liver, aminoacidopathies, metab errors

uric acid

what purines are broken down into

inc

uric acid is inc/dec in

-gout

-chemo (DNA replic attacked)

dec

uric acid is inc/dec in

-severe liver disease

-Fanconi’s (def tubular abs)

inc, dec

serum ammonia, urea in severe liver disease

ammonia

-aa breakdown

inc in

-liver failure

-Reye’s syndrome (Aspirin pois)

-citrulllinemia

-argininosuccinuria

creatinine

most specific renal function marker

urea

-breakdown of ammonia in liver

-meas with BUN

inc

BUN is inc/dec with

-nephrotic syndrome

-starvation

-high protein intake

-dec kidney funct

-dehydration

dec

BUN inc/dec with

-low protein intake

-severe liver disease

inc, n, inc

BUN, creatinine, ratio in pre-renal azotemia

-CHF, shock, dec renal funct, high prot diet, starvation

inc, inc, n

BUN, creatinine, ratio in renal azotemia

-renal failure, glomerulonephritis, nephrotic syndrome, tubular necrosis, tubular acidosis

INC, inc, inc

BUN, creatinine, ratio in post-renal azotemia

-obstruction of urine flow (tumor, stones, gall stones)

eGFR

-measurement of glomerular funct

-serum only (no urine needed)

-age, race, weight → more specific and accurate

insoluble

unconjugated bilirubin is water insoluble/soluble

kernicterus

issue occurs with elevated unconjugated bilirubin

-brain damage

indirect, delta

bilirubin forms bound to albumin

soluble

conjugated bilirubin is water insoluble/soluble

UDP-glucuronyl transferase

enzyme adds two glucuronyl groups to indirect bili to make it bilirubindiglucuronide (conjugated and polar)

delta

-conjugated bili bound to albumin

-only seen in hepatic obstruction (can’t get into bile)

AST, ALP, ALT, 5NT, GGT

liver enzymes

ALP

most sensitive liver enzyme

-also elevated in pregnancy and bone disorders

ALT

most specific liver enzyme

GGT

liver enzyme increased with alcohol abuse

inc, n, none, inc

plasma/serum indirect, direct and urine bili, urobili with pre-hepatic

-hemolytic anemias, HDFN

all inc

plasma/serum indirect, direct and urine bili, urobili with hepatic

-hepatitis, cirrhosis, hemochromatosis

n, inc, inc, dec

plasma/serum indirect, direct and urine bili, urobili with post-hepatic

-obstruction, gall stones, tumors

-gives clay colored stools

Gilbert’s disease

-UDPGT defect

-elevated serum indirect bilirubin

-dec serum direct and urine urobili

Crigler-Najarr syndrome (CR)

-partial or complete UDPGT defect

-inc serum indirect

-low to no serum direct and urine urobili

Dubin Johnson (DJ)

-can conjugate bili, but can’t excrete

-dark liver granules

-inc serum direct and urine bili

-dec urine urobili

Rotor syndrome

-can conjugate bili, but can’t excrete

-inc serum direct and urine bili

-dec urine urobili

ALA dehydrogenase, CPG oxidase, ferrochelatase

enzymes in protoporphyrin synthesis pthwy that are affected by lead pois

acute intermittent porphyria (AIP)

-PBG deaminase issue

-neuropsych

-tummy ache

-port wine urine

-females 20-30

-inc PBG and delta ALA in urine

porphyria cutanea tarda (PCT)

-UROD issue (UPG decarboxylase)

-cutaneous

-light sensitive

-inc UPG in urine

HCP

-CPG oxidase issue

-inc CPG and UPG in urine

-neurocutaneous

variegate porphyria (VP)

-PPOX issue

-neuropsych and cutaneous

-light sensitivity

-inc PPG and CPG in urine

cystinuria

-renal aa reabs issue at tubules

-cystine buildup

-cystine crystals and kidney stones

-treat: inc H2O intake, penacillamine

-test: cyanide nitroprusside

cyanide nitroprusside

test for cystine in cystinuria

homocystinuria

-defective met → cystine metabolism (cystathione B-synthase)

-high blood and urine homocystine

-megaloblastic anemia

-heart attack risk marker

-treat: restrict cystine in diet, vit B6, B12

-test: modified Guthrie (L-methionine sulfoximine)

modified Guthrie (L-methionine sulfoximine)

test for homocystinuria

citrullinemia (type I)

-defective ASS1

-can’t get ammonia into urine

-high blood levels citrulline and ammonia

-failure to thrive, brain damage

-treat: low prot, supp Arg

-sodium benzoate and phenylacetate

citrullinemia (type II)

-defective citrin

-carb metabolism defect

-low blood sugar

-high blood aa and ammonia

-nervous system

-trat: low carb, supp Arg

argininosuccinic aciduria

-ASL defect

-argininosuccinic acid not turned into Arg

-high blood levels citrulline and ammonia

-failure to thrive, brain damage

-treat: low prot, supp Arg

phenylketonuria

-PAH defect

-phenylalanine can’t → tyrosine

-pale, high phenylalanine, musty/mousy urine with ketones

-treat: low phenylalanine, supp L-Tyr

-test: Guthrie (B-2-thienylalanine)

Guthrie (beta 2 thienylalanine)

phenylketonuria test

tyrosinemia (type I)

-FAA hydrolase issue

-no fumurate and acetoacetate from FAA

-Tyr and Leu urine crystals

-liver damage

-treat: low prot, liver transplant

-test: tandem MS

tyrosenemia (type II)

-tyrosine aminotransferase issue

-no PHPPA from Tyr

-Tyr and Leu urine crystals

-liver damage

-treat: low prot, liver transplant

-test: tandem MS

tyrosinemia (type III)

-4-HPPOX issue

-no HGA from PHPPA

-Tyr and Leu urine crystals

-liver damage

-treat: low prot, liver transplant

-test: tandem MS

alkaptonuria

-homogentisate oxidase issue

-no MAA from HGA

-black urine disease

-connective tissue pigmentation

-treat: vit C

-test: urinalysis (ferric chloride), GCMS

ferric chloride (urine), GCMS

tests for alkaptonuria

MSUD

-BCAA alpha-ketoacid decarboxylase issue

-impaired BCAA metab (Leu, Ile, Val)

-maple syrup smell

-ketoacid accum

-treat: low BCAA diet

-test: modified Guthrie (4-azoleucine)

mod Guthrie (4-azoleucine)

test for MSUD

acute

pancreatitis

-sudden and severe

-abdom pain, nausea, fever

-caused by gall stones, high TGs

-inc amylase and lipase

chronic

pancreatitis

-persistent and recurrent

-weight loss, steatorrhea, nausea, vom

-caused commonly by alcohol abuse

-inc fecal elastase