MCM Final - Inborn Errors in Metabolism Flashcards
Von Gierke’s Disease
glycogen storage disease
deficient in glucose 6 phosphatase
enlarged liver, sever hypoglycemia, lactic acidosis, ketosis, hyperuricemia, and hyperlipidemia
maple syrup urine disease
amino acid metabolism disease
branched chain not working
burnt sugar smell**
Pompe’s Disease
glycogen storage disease
deficient in lysosomal 1,4 D glucosidase
cardiac failure in infancy
Cori’s Disease
glycogen storage disease
deficient amylo 1,6 glucosidase (debranching enzyme)
milder type I (Von Gierkes)
Andersen’s Disease
glycogen storage disease
deficient branching enzyme in liver
-causes liver cirrhosis
McCardles Disease
glycogen storage disease
deficient phosphorylase in liver **
muscle cramps, easily fatigued
Hers Disease
glycogen storage disease
deficient phosphorylase enzyme in liver**
milder type I (von gierkes)
glycogen storage disease
can’t break down glycogen to supply glucose
symptoms of glycogen storage disease
low blood sugar, enlarged liver, retarded growth
are glycogen storage diseases fatal?
no
clinical symptom of mcardles disease?
burgundy colored urine
contains myoglobin
are glycogen storage disease dominant or recessive?
recessive
what enzyme is deficient in mcardles disease?
glycogen phosphorylase
muscle fatigue in mcardles disease?
NOT due to lactic acid build up
-but lack of ATP
alternative energy source is creatine kinase to produce ATP
what enzyme is deficient in von gierkes disease?
glucose 6 phosphatases
glucose 6 phosphate > glucose
located in the liver and kidneys (not muscle or brain)
Phenylketonuria (PKU)
cannot convert phenylalanine to tyrosine
deficient enzyme is phenylalanine hydroxylase (PAH)
-uses tetrahydrobiopterin (BH4)
also can lead to PKU
symptoms:
- self-mutilation - fair skin - mousy odor
phenylalanine hydroxylase
PAH
converts Phenylalanine to tyrosine
deficient in PKU
tetrahydrobiopterin
BH4
enzyme converting phenylalanine to tyrosine
deficient can lead to PKU
guthrie test
always indicator of amino acid metabolism
test for presence of phenylalanine
-indicates PKU
HPLC analysis
test for phenylalanine levels
helps in PKU diagnosis
instantaneous**
5-hydroxytryptophan
decarboxylated to serotonin
inhibited by high concentrations of phenylalanine
PKU therapy?
restrict diet to low Phe
supplement for Tyr THAT’S IT!
monitor Phe levels in blood
no enzyme**
foods high in Phe?
proteins
do any metabolic disease have a cure?
nope!
