Biochem- Amino Acid Metabolism Part 2

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What are the three organs most affected in amino acidopathies

brain
liver
kidneys

What disorders are related to Phenylalanine and Tyrosine?

Phenylketonuria
albinism
alkaptonuria
Tyrosinosis

What disorders are related to Branched chain AA's (VLI)

maple syrup urine disease
methylmalonic aciduria

What disorders are related to Sulfur containing AAs

Homocystinuria

What occurs during amino acidopathies

enzyme deficiency causes accumulation of toxic substances which

What is the screening test for PKU called

Guthrie plate

How many testst must be performed on an infant for PKU and why

2 because the first test might be a false negative due to maternal clearance of phenylalanine in a child's blood

What is the enzyme deficient in PKU1?

Phenylalanine hydroxylase (PAH)

What are the coenzymes of PKU1

TEtrahydrobiopterin (BH4)
Dihydrobiopterin (BH2)

What is the ketoacid derivative of Phenylalanine that builds up 3

phenylpyruvate
phenylacetate
phenylactate

What type of odor urine does PKU1 have

mousey odor

What is observed if the PKU is not detected during early development?

major IQ redcution

What occurs during maternal PKU syndrome

women with PKU is pregnant, but high Phenylalanine levels are present

What enzyme is deficient in PKU II

Dihydrobiopterin synthesis
Dihydrobiopterin reductase

What are the CNS symptoms of PKU II

Decreased catacholamine and serotonin formation

What is PKUII treated by

dietary Phe restriction
biopterin supplements

Which is more severe PKU II or PKU I?

PKU II

What type of reactions is BH4 used for?

hydroxylation of aromatic ring structures

What are the two treatments of PKU

avoidance of phenylalanine
Sapropterin- synthetic BH4

What enzyme is inhibited in alkaptonuria

Homogentisic acid oxidase

What is the action of homogentisic acid oxidase

Homogentisic acid to maleylacetoacetate

Where does homogentisic acid deposit? and what does it cause

cartilage and CT
ochronosis

What is the coloration and smell of the urine an alkaptonuria

black urine

What can alkaptonuria lead to later in life

severe arthritis

What are the dietary restrictions in alkaptonuria

Phe and Tyrosine

What is the enzyme deficiency in Tyrosemia Type 1

FUmaryl acetoacetate hydrolase

What are the manifestations of tyrosemia

Liver and renal failure
cabbage odor of urine

What are the dietary restrictions in Tyrosemia

Tyr and Phe

What is tyrosine required for?

Nucleotide synthesis

What are the Amino acids that must be avoided in MSUD?

Branched chain AA's
Valine Leucine Isoleucine

What are branched chain AA's deaminated into?

branch chain Ketoacid

What compounds accumulate in MSUD?

Branch chains alpha ketoacids

What type of neurological defects occur in MSUD

muscular hypotonia, seizures

What is the treatment of MSUD

TPP supplementation

What enzyme is deficient in MSUD? 3

branch chain Ketoacid DH
A-KG DH
Pyruvate DH

What are the 5 cofactors in MSUD?

TPP, lipoic acid, FADH, NAD, CoA

What are the products of the three enzymes

CoA derivative's of the enzymes

What is the action of metylmalonyl CoA mutase?

Methylmaolnyl CoA--- succinyl CoA

What are the symptoms of metylmalonyl CoA mutase deficiency

Methlmalinic acidemia

What vitamin can be added to the diet to alleviate the symptoms of metylmalonyl CoA mutase deficiency

B12

What is the enzyme deficiency in homocystinuria

Cystathione B- synthase

What is the action of cystathione B-synthase?

Homocysteine to cystathione

What is the methyl donator to homocysteine?

SAM

What vitamin is used in treatment of homocystinuria

B6

what are symptoms of homocystinuria

discoloration of lens
mental retardation

What does the extra homocystine bind to?

CT and collagen

What may homocysteine be recycled to?

methionine

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