Metabolic Profile of the Brain Flashcards
what are the GLUT transporters responsible for bringing glucose into the brain ?
Glut 1 and Glut 3
what types of amino acids compete for transporter #4
phe, tyr, try and branched chain amino acids
serotonin and melatonin are made from
tryptophan
what inhibit the production of serotonin and melatonin
branch chain amino acids
phenylketonuria is a deficiency in
phenylalanine hydroxylase
people with PKU disease often have decreased _______ synthesis resulting in a deficiency in pigmentation
melanin
what aa becomes essential in people with PKU
tyrosine
where are ketone bodies produced
liver
what is the main energy source when the body is in acute hypoglycemia (24 hours starvation)
glucose
what is the main energy source for prolonged hypoglycemia (starvation)
liver produces ketone bodies that take over for glucose and serve as the major energy source thus sparing muscle protein
glutamate is made from
glucose via alpha ketogluturate
GABA is made from
glutamate
glutathionine is made from
glutamate
The Pentose phosphate pathway is essential for
antioxidant system and lipogenesis
composition of sphingolipids
sphingosine + fatty acid + X
glucose + ceramide
glucocerebroside
galactocerebroside
galactose + ceramide
what accumulates in gaucher disease
glucocrebroside
what accumulates in Krabbe’s disease
galactocerebroside
ceramides containing a sulphated galactose
sulphatides
what accumulates in metachromatic leukodystrophy-MLD
suplphatides
ceramide oligosaccharides containing one or more mols of NANA (sialic acid)
gangliosides
what acccumulates in TaySach’s diseasee
gangliosides (GM2)
what is the enzyme is deficiency in tay sach’s disese
hexosamindase A
what enzyme is deficient in fabry disease
alpha glactosidase A
what enzyme if deficient in Krabbe disese
beta galactosidase
what enzyme is deficieny in metacrhomatic leukodystrophy
arylsulfatase A
what enzyme is deficient in Niemann pick disease
sphingomyelinase
cherry red spot on the macula
tay-sach’s disease
what is the substance that accumulates in gaucher disease
glucocerebroside
what is the substrate that accumulates in tay sach’s disease
ganglioside Gm2
what is the substrate that accumulates in krabbe disease
glactocerebroside
what substances accumulates in fabry disease
ceramide trihexoside
what accumulates in niemann pick disease A and B
sphingomylein
what accumulates in niemann pick C and D
cholesterol
hepatosplenomegaly, metal retardation, crupled tissue paper appearance
gaucher disese
metal retardation, blindness, death in infancy, cherry red spot on macula
tay sachs
hepatosplenomegaly, metal retardation, cholesterol accumulation
niemann pick
skin rash, kidney failure
fabry disease
mental retradation, absence of myelin
krabbe disease
what sphingolipidoses is X linked
Fabry disease
what are the three types of gaucher disease
non-neuronopathic
acute neuronopathic
subacute neuronopathic
what form of gaucher disease affects infants
type 2
what type of gaucher is primary CNS disease
type 2
skeletal abnormalities is present in what type of gaucher
type 1 and type 3
reactions that use vitamin B12
convert homocysteine to methionine and to convert methylmalonly to succinyl coa
in vitamin b12 deficiency what accumulates in the urine
methyl malonate
how does the accumulation of methylmalonyl CoA interfere with myelin sheath formation
by competitive inhibition of malonyl CoA carboxylase
by disrupting membrane structure through incorporation of methylmalonyl CoA producing branched chain fatty acids
how of ammonia reoved
by a glutamine synthetase reaction
the glutamate synthetase reaction converts
glutamate to gluamine
what does glutamine do to the mitochondria
increases mitochondrial permeability
removal of alpha ketogluturate from the TCA cycle results in
depletion of ATP
what other things also deplete when you ahve too much ammonia
glutamate and GABA
what are the two common causes of hyperammoniemia
acquired hyperammonemia (liver disease) and hereditary hyperammonemia (genetic deficiency of a urea cycle enzyme)
type I urea cycle deficiency
carbomyl phosphate synthetase deficiency, lethal neonatal
type II urea cycle deficiency
ornithine transcarbamoylase deficiency, X linked, most common, treat with arginigne and low protien diet