Metabolism Disorders Flashcards
G-6-phosphatase defic
type/cause/complications
GLYCOGEN STORAGE DZ
G-6-Pase defic is most severe
GLUCOSE CAN’T LEAVE LIVER (trapped as G6P)
Comp: chronic lactic acidosis, hepatic cancer, renal dysfxn, osteoporosis
G-6-phosphatase defic (pres/treat)
In first year of life, severe fasting hypoglycemia 3-4 hours after meal
Incr lactate –> ACIDOSIS
Incr FFA synth –> HYPERLIPIDEMIA
INCR URIC ACID (HMP SHUNT) AND DECR RENAL EXCRETION
Treat: constant glucose to avoid hypoglycemia, RAW CORNSTARCH for more widely spaced feedings
Hepatic Glycogen Synthase defic (GSD 0)
GLYCOGEN SYNTHESIS DEFIC
Inability to synthesize glycogen
Pres: fasting hypoglycemia, severe KETOTIC hypoglycemia
ONLY GSD WITHOUT HEPATOMEGALY
Increased lactate
Treat: hi protein diet to provide gluconeogenesis
Branching enzyme defic
GLYCOGEN SYNTHESIS DEFIC
very rare, accumulation of straight chain glycogen in lvier and muscle
Pre: HypOG not as severe –> MORE WEAKNESS and hepatomegaly
Liver injury can be severe and lead to death before age 6
Supportive treatment
Phoshorylase and Phoshorylase Kinase Defic
GLYCOGEN BREAKDOWN DISORDER
together 25-30% of GSD
Milder then G6pase defic
Pres: HEPATOMEGALY, short stature, mild weakness, ketotic hypoG
Treat: raw cornstarch may improve energy (keep up dieatry carbs)
DEbranching enzyme defic
GLYCOGEN BREAKDOWN DEFIC
Accumulation of abnormal glycogen in liver and muscle
Pres: HEPATOMEGALY, short stature, delayed growth
Seems to improve into adulthood
F-1-6Bphosphatase defic
GLUCONEOGENIC DISORDER
Inability to generate glucose via gluconeogenesis
Poss precipitant: high fructose ingestions
Pres: LATE hypoG (18-24 hrs)
NO HEPATOMEGALY
SEVERE lactic acidosis, with Kussmual breathing
High pyruvate and ketones in fasting
Treat: acute: give glu to correct lactate and remove need for gluconeogesis, also avoif long fasting
Hereditary Fructose Intolerance
ALDOLASE defect leads to F1P accumulation (inhibits glycolysis and gluconeogenesis)
Pres: HYPOGLYCEMIA, sx can begin with fruit into diet: N/V, pallor, ELEVATED LFTS
Treat: restrict dietary fructose (inc sucrose as half fructose)??
Galactosemia
GALT enzyme defic so can’t metabolize galactose
Galactose is sugar in milk
Build up injures liver –> JAUNDICE, COAG PROBS
CATARATCS, neuro sx: ataxia, tremor, speech impaired
Treat: dietary restriction of galactose
Medium Chain Acyl CoA Dehydrogenase defic
what is it?
MOST COMMO GENETIC CAUSE of IMPAIRED FAT OXIDATION
Cannot oxidize medium chain FSs
Incr glucose demand AND decr gluconeogenesis) as fat oxidation provides energy for gluconeogen)
Medium Chain Acyl CoA Dehydrogenase defic
pres/treat
FAILURE TO PRODUCE KETONE BODIES
HypoG 12-18 hrs after food, NO hepatomegaly, NO ketones
Pres: infancy to early childhood, assoc with viral infx
Incr levels of medium chain FAs
Accumulation of glucneogen precursors in form of urinary organic acids
Treat: frequent carb rich feedings
Very Long Chain Acyl CoA Dehydrogenase defic
same as Med chain but longer FAs (C20-24)
same pres but mya be milder and pres later in life
Mya have muscle soreness or rhabdomyolosis after exercise
Treat: frequent carb rich feedings
CPT-1 defic
UNABLE TO MOVE FA into MITOCHONDRIA
Pres: Fasting hypoG with low ketones
In infancy after viral illness
Increased FREE CARNITINE but decr Acyl-CARNITINE
Elevated ammonia (from nitrogen rmeoved form amino acids used for gluconeogenesis)
Treat: frequent carb rich feedings
