MMT: metabolic disorders aka hell pt I Flashcards
(47 cards)
what is deficient in classic galactosemia
GALT, which catalyzes conversion of galactose-1-p to UDP galactose using UDP glucose
what is the presentation of classic galactosemia
jaundice, renal failure, developmental delay, risk of E coli sepsis, eventual cataracts
what is deficient in nonclassical galactosemia
GALK (galactokinase), which converts galactose to galactose-1-p
what is the presentation of nonclassical galactosemia
cataracts, risk of E coli sepsis
how do we treat galactosemias
avoid galactose in the diet, including avoiding lactose/milk
what is deficient in pompe disease
lysosomal a-1,4 glucosidase
what is the pathophysiology/presentation of pompe disease
glycogen accumulates in lysosomes, leading to weak muscles, hypotonia, hepatomegaly, growth delay, and feeding problems. infantile form causes early death and cardiorespiratory failure
what is deficient in leigh syndrome
pyruvate carboxylase
describe the pathophysiology of leigh syndrome
deficient pyruvate carboxylase means we cannot regenerate oxaloacetate from pyruvate. the buildup of pyruvate causes excess lactate formation and metabolic acidosis. inability to reform adequate oxaloacetate will also lead to TCA and glycolysis being impaired, leading to motor and CNS issues
describe the presentation of leigh syndrome
necrotizing brain lesions, loss of basic skills, metabolic acidosis
how do we treat leigh syndrome
high thiamine or biotin, high fat low carb diet, ketogenic amino acids
describe holocarboxylase synthetase deficiency
hydrocarboxylase synthetase normally adds free biotin to carboxylases. leads to metabolic acidosis, lethargy, hypotonia, seizures, dermatitis
how do we treat holocarboxylase synthetase deficiency
give biotin
what is a major sign of multiple carboxylase deficiencies
metabolic acidosis from pyruvate buildup
describe biotidinase deficiency
should “free biotin” from its cofactor position, and without it biotin is unavailable for future use.
what is the presentation of biotidinase deficiency
lactic acidosis via inability to use biotin for pyruvate carboxylase
describe arginase deficiency
lack of arginase in the urea cycle leads to buildup or arginine and ammonia
what are symptoms of arginase deficiency
hyperammonemia, poor feeding, spastic paraplegia, seizures
how do we treat arginase deficiency
sodiu, phenylacetate-sodium benzoate, low arginine diet
describe argininosuccinase deficiency
lack of argininosuccinase in the TCA cycle leads to buildup of argininosuccinate and citrulline. the argininosuccinate can be excreted, but the lack of it impairs the ability to resupply ornithine which can be a problem
what are signs of argininosuccinase deficiency
hyperammonemia, poor feeding, seizures, vomiting, spasticity
how do we treat argininosuccinase deficiency
arginine supplementation, sodium phenylacetate-sodium benzoate, low protein diet
what is citrullenemia type I
argininosuccinate synthetase deficiency, aka inability to generate argininosuccinate from aspartate and citrulline
what builds up in argininosuccinate synthetase deficiency
citrulline and ammonia
