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inborn error of metabolism (common metabolic pathway (anabolism…
inborn error of metabolism
Mendel's low and pattern of inheritance
Mendelian modes of inheritance
Autosomal dominant
X-linked dominant
Autosomal recessive
understand them will enable us to analyze pedigrees
X-linked recessive
Mendel's lows
low of independent assortment
the alleles of two or more different genes get sorted into the chromosome independently from one another, thus the allele the gametes receives for one gene does not influence the allele received for another gene
low of segregation
two alleles coding for the same trait separate during gamete formation
low of dominance
in heterozygous condition, the allele whose trait is expressed over the other allele is called dominant allele
common metabolic pathway
anabolism
glycogenesis
gluconeogenesis
catabolism
glycolysis
glycogenolysis
pentose phosphate pathway
citric acid cycle
urea cycle
oxidative phosphorylation
fatty acid beta oxidation
gene expression
central dogma
4- post translational modification
3- Translation
2- Post transcriptional processing
1- Transcription
common inborn errors of metabolism
galactosemia
galactokinase deficiency
deficiency in the enzyme galactokinase
classic galactosemia
deficiency in the enzyme GALT
phenylketonuria
deficiency in the enzyme phenylalanine hydroxylase
fructose intolerance
hereditary fructose intolerance
deficiency in the enzyme aldolase B
essential fructosuria
deficiency in the enzyme fruktokinase
maple syrup urine disease
deficiency in the enzyme BCKD
lead to
metabolic consequence of enzyme deficiency
depend on the case
cataract
hypopigmentation
hepatomegaly
kidney damage
jaundice
require management
prenatal diagnosis of IEM
amniocentesis
fetal blood sampling
fetal liver biopsy
chorionic villus sampling
signs and symptoms
depends with which pathway is affected for example in galactokinase deficiency there will be excess galactose and it will be concverted into galactitole which cause cataract
causes of failure to thrive (FTT)
the child dont want to eat or eat small amount
problems in digestive system
baby is not taking enough food
infections
metabolic disorder
cow milk Vs breast milk
cow milk
more proteins
more calcium
more saturated fats
more casein proteins
breast milk
more fat
more carbohydrate
easily absorbed
more iron
more unsaturated fats
more whey proteins
better for newborn babies till 1 year
investigations for IEM
family history
genetic testing
newborn screening
physical examination
management of (galactosemia) for example
diet management
dairy free diet
effect of consanguinity marriage
increase the chance of (IEM) with an autosoamal recessive inheritance
Non-Mendelian inheritance
such as
codominance
incomplete dominance
mitochondrial inheritance