Lysosomal Storage Disoders Flashcards
LSD
GSD Type 2 (Pompe)
__ enzyme defects, limit degredation of __ stored in __/__
def of ___ (acid maltase) found in __ and results in __ in lysosome
results in __, particularly of _/__/__ muscle
Presents w __ and __ around 4m
signs of __/__/__/__
Dec levels of __
confirm w serum __ assay
AR, glycogen, liver/muscle
acid alpha glucosidase, lysosomes, glycogen
tissue destruction
cardiac/Smooth/skeletal
cardiomyopathy, hypotonia
cardiomegaly, RDS, feeding diff, FtT
acid maltase
alpha glucosidase enzyme
FA oxidation defects
Indiv w defects in __ of FA are unable to metabolize FA for ___
during fast, once __ used up, __ will maintain normal BG
As __ depletes, __ is initiated to maintain BG for __
inability to generate __ results in ___
b oxidation, gluconeogenesis
glucose, glycogenolysis
glycogen, gluconeogenesis, brain
glucose, brain dysfxn
MCAD def
MCAD degrades FA bw __ and __ in length to __ and __ for ___
__ defect of FA oxidation
Children normal until __, such as w __/__
W inadequate gluco, children get ___ __, w __/__
if not corrected, __, perm __, and __
labs- non- __, inc __ in urine
Dx- inc __
some infants w sx w/in __
measure __ confirm elevated __ (C6-10)
6 and 12, short chain FA/acetyl coa, ketone bodies
Most common
fasting
illness, dec intake
hypoketotic hypogly, AMS/lethargy
seizure, brain injury, SIDS
non ketotic hypogly, dicarboxylic acids
C8 acyl
days
plasma acyl, medium chain acyl
LCHAD def
LCHAD degrade FA longer than __
def results in __, causing skeletal __, __ and progressive __ and __
Preg women w baby affected by LCHAD def have inc risk of ___ of preg
newborn screening shows inc ___
12 carbons
mito dysfxn, myopathy, cardiomyop, liver cirrhosis/PN
acute fatty liver
16-OH acylcarnitine
VLCAD def
presents w __ __ and sx of FA deposition in ___
can see __/__ in liver
__/__ in heart
__ of muscle
Newborn screen shows inc __
restrict __ to prevent __
hypoketotic hypogly, organs
hepatomegaly/liver dysfxn
cardiomyop/HF
muscle weakness
C14 aclycarnitine
dietary fat, organ deposition
Classic galactosemia
___ def of ___
leads to accumulation __/__
Excess __ metabolized by __ to __, depositing in __/__/__ and __
inc liver levels of __ inhibit enzymes of ___, leading to ___ w consumption of __ load
AR, GALT
galactose, Gal-1-P
galactose, aldose reductase, galactitol
liver/kidney/lens/cerebral cortex
Gal-1-P, glycogenolysis, hypogly, galactose
Classic Galactosemia
infants develop sx after __ (breast/cow formula)
present w __, __, __
PE shows enlarged __, C
labs show H, abnormal __, and __ in urine (due to galactose)
__ absent
Dx- inc levels of __
confirm w measure of RBC __, shows __/__ of enzyme
milk feedings
jaundice, poor feeding, vomiting
liver, cataracts
hyperbilirubinemia, LFTs, reducing substances
ketones
galactose
GALT
absence/depletion
XLArendro
Boys have __ and __ resembling ADHD
followed by rapid __, __, and __ and __
__ insuff
w/out tx, disabled in __ and die in __ yrs
screen w inc __
confirm by measuring plasma __, particularly __
Genetic testing confirms __
measure adrenal fxn w __
learning disability, behavior probs
progression, blindness, quadriceps, seizures
adrneal
2yrs
5-10yrs
LPC
VLCFA, hexacosanoic acid
ABC gene mut
ACTH stim testing
