1lacking of protein specifically enzymes that are responsible for metabolizing, converting, processing, transporting different types of amino acids
aminoacidophaties
2an important protein that may be deficient in acidopathies, these are responsible for transporting amino acids which will cause increase level of amino acids
abnormal membrane transport
3defined acidopathy in 1909
garod
4excess production of phenylalanine
phenylketonuria
5phenlylalanine hydroxylase deficiency
phenlyketonuria
6responsible for converting phenylalanine to tyrosine
phenylalanine hydroxylase
7substancs formed when phenylalanine is not converted to tyrosine
also causes mental retardation
phenylpyruvate
phenylacetate
penyllactate
phenylacetyl-glutamine
8what substances are inhibited when there is high levels of phenylalanine
tryptophan
tyrosine
9causes albinism
lack of tyrosine enzyme
10a cofactor required for the enzymatic hydroxylation of the aromatic amino acids
tetrahydrobiopterin (BH4)
11diseases that is caused by phenlyketonuria
mental retardation
albinism
12 normal level of phenylalanine
120 micromole per liter/ 2 mg per deciliter
13normal levels of phenylalanine for patients that do not have the enzyme responsible for phenylalanine conversion
1200 micromole per liter
14included in new born screening
phenylketonuria
15where is phelyketonuria found when tested
blood and urine
16manifestations of phenylketonuria in urine
must odor
17manifestations of phenylketonuria in pregnant women
delivers microcephalic babies
18manifestations phelyketonuria to individuals
mental retardation
failure to walk
failure to thrive
prone to seizures and tremors
iq level below 50
hypopigmentation
19management of phenylketonuria that increase activity of PAH enzyme if still present in body
saptopterin dihydrochloride (Kuvan)
20management of phenylketonuria that is used as a substitute to PAH enzyme and lowers phenylalanine levels
Pegvaliase-PQPZ (Palynziq®)
21direction of use of Pegvaliase-PQPZ (Palynziq®)
used once a day
22dietary management of phenylketonuria
dietary restrictions of food high in phenylalanine
Restriction to use of the artificial sweetener Aspartame since it contains phenylalanine
Dietary restriction of phenylalanine with tyrosine supplementation (since
phenylalanine is the precursor of tyrosine
23high levels of tyrosine
tyrosinemia
24if not used to produce proteins, melanins and other neurotransmitters what is tyrosine converted into?
fumarate and acetoacetate
25three types of tyrosinemia
type I
type II
type III
26enzyme lacking in tyrosinemia
fumarylacetoacetate hydrolase
27used to break down fumarylacetoacetate to fumarate
fumarylacetoacetate hydrolase
28manifestation of type I tyrosinemia
failure to thrive
diarrhea
vomiting
jaundice
cabbage like odor
distended abdomen
swelling of legs
increased predisposition for bleeding
liver cancer/ liver cirrhosis
29most severe form of tyrosinemia
type I
30management of type I tyrosinemia
nitisinone (Orfadin, Nitryr)
diet restriction in foods with tyrosine
31a tyrosine degredation inhibitor
nitisone
32missing enzyme in type II tyrosinemia
tyrosine amino transferase
33manifestations of type II tyrosinemia
mental retardation
excessive tearing
photophobia
red eye
eye pain
lesion in the sole and palm (palmo plantar hyperkeratosis)
34management of type II tyrosinemia
no specific drug that will substitute the enzyme
nly manage the sugns and symptoms
diet restriction on food high in phenylalanine and tyrosine
35missing enzyme in type III tyrosinemia that will convert phenylpyruvate to homogentisate
4 - hydroxyphenylpyruvate dioxygenase
36manifestation of type III tyrosinemia
mild mental retardation
seizures
periodic loss of balance and coordination
37management of type III tyrosinemia
no available treatment but diet is recommended
38there is an increase concentation of leucine, isoleucine, and valine due to lacking of the ketoacid enzyme
maple syrup urine disease
39ketoacid product of leucine
keto alpha-ketoisocaproic acid
40ketoacid product of isoleucine
alpha keto beta-methylbaleric acid
41ketoacid product of valine
keto alpha-ketovaleric acid
42manifestation of maple syrup urine disease
maple syrup or burnt sugar odor of urine, breath, skin
reddish color urine
vomiting
lack of appetite
failure to thrive
muscle rigidity
respiratory irregularities
43management for maple syrup urine disease
Vitamine B1 (Thiamine)
restriction diet
44black urine disease
block bone disease
alkaptonuria
45missing enzyme in alkaptonuria
homogentisate dioxygenase
46accumulation of alkaptone in eyes, nose, ears' connective tissue
orchonosis
47managemet of alkaptonuria
ascorbic acid
nitisinone
48high levels of cysteine
cystinuria
49lacking of SLC 3AI (responsible of transporting of cysteine)
cystinuria
50manifestations of cystinuria
UTI
hematuria
dysuria
51management of cystinuria
hydration
urinary alkalinizer (potassium citrate, acetozalamide)
chelating agent (pencillamine)
crystal growth inhibitors (l-cysteine, dimehtyl esters)