Nutrition Flashcards
Essential fructosuria
fructokinase deficiency
benign
fructose in urine
hereditary fructose intolerance
aldolase B deficiency
hypoglycemia, jaundice, cirrhosis, vomiting
Galactokinase deficiency
galactosemia and galactosuria
infantile cataracts
benign
classic galactosemia
galactose-1-phosphate uridyltransferase deficiency
failure to thrive, intellectual disability,
jaundice, hepatomegaly
infantile cataracts
Phenylketonuria
↓ phenylalanine hydroxylase or tetrahydrobiopterin
intellectual disability, seizures
musty body odor
tx: ↑ tyrosine in diet and avoid phenylalanine.
Maple syrup urine disease
blocked degradation of branched chain amino acids
Isoleucine, Lecuine, Valine
↓branched-chain α-ketoacid DH causes ↑ α-ketoacidemia
vomiting
maple syrup urine
severe CNS effects
Homocysteinuria vs
Cysteinuria
HOMOCY Homocysteinuria Osteoporosis Marfinoid habitus Ocular changes (lens subluxation) Cardiovascular (thrombosis and atherosclerosis) kYphosis
Cysteinuria
just causes hexagonal kidney stones
Von Gierke disease
Glucose-6-P deficiency → impairs glycogenolysis
severe fasting hypoglycemia
can cause gout, hepatomegaly, renomegaly
Pompe disease
Lysosomal acid α-1,4-glucosidase decifiency
Cardiomegaly, hypertrophic cardiomyopathy → death
Cori disease
α-1,6-glucosidase (debranching enzyme) deficiency
milder form of von gierke disease
McArdle disease
skeletal muscle glycogen phosphorylase deficiency
muscles can’t break down glycogen → cramps
Tay-Sachs
↓ hexoasaminidase A
neurodegeneration
cherry red spot on macula
no hepatoplenomegaly
Fabry disease
↓ α-galactosidase A peripheral neuropathy angiokeratoma hypohidrosis (↓ sweat) renal failure cardiovascular disease
Gaucher disease
↓ glucocerebrosidase hepatosplenomegaly pancytopenia avascular femur necrosis bone crises Gaucher cells (lipid-laden macrophages resembling crumpled tissue paper)
Niemann-Pick disease
↓sphingomyelinase neurodegeneration hepatosplenimegaly foam cells cherry red spot on macula
Hunter vs Hurler syndrome
Hunter → iduronate-2-sulfatase
Hurler → α-L-iduronidase
Hunter → mild hurler syndrome
aggressive behavior, no corneal clouding
Hurler developmental delay, gargoylism corneal clouding hepatosplenmegaly airway obstruction
Gilbert syndrome
Mild ↓ UDP-glucuronosyltransferase
↑ unconjugated bilirubin
mild jaundice with stress, illness, or fasting
benign
Crigler-Najjar syndrome
Type 1: Absent UDP -glucoronosyltransferase
↑ unconjugated bilirubin
jaundice, kernicterus (brain bilirubin deposition)
needs liver transplant
Type 2: less severe, responds to phenobarbital
Dubin Johnson syndrome
conjugated bilirubinemia due to defective liver excretion
Black liver
benign
Rotor syndrome
conjugated bilirubinemia due to impaired hepatic uptake and excretion
Regular appearing liver (not black like dubin-johnson)
Wilson disease
Copper accumulates in liver, brain and eyes
Kayser-fleischer rings in cornea
defects in copper-transporting ATPase
ATP7B gene, chromosome 13
Hemochromatosis
Iron accumulates in body
HFE gene mutations (chromosome 6)
HLA-A3
Alkaptonuria
Homogentisate oxidase deficiency
blue-black connective tissue in ear, eye
arthralgias
