Flashcards in Nitrogen Metabolism Deck (25):
In hereditary hyperammonemia, what is the COMMON enzyme deficient?
In hereditary hyperammonemia, what is the most SEVERE deficiency?
Treatment for hereditary hyperammonemia?
2 reasons for phenylketonuria?
1) decreased phenylalanine hydroxylase; 2) decreases tetrahydrobiopterin
Clinical presentation of phenylketonuria?
accumulation of phenylketones, severe mental retardation, fair skin and eczema, musty body odor
What is deficient in alkaptonuria?
What are the clinical presentation of alkaptonuria?
alkapton bodies ( turn to black urine), ochronosis, debilitating arthralgia, oslers sign
What is deficient in albinism?
copper, requiring tyrosinase due to lack of tyrosinase transporters
what disease has defect in methionine degradation?
What is an important clinical presentation of homocystinuria?
Stroke in the children and young adults
Homocysteine needs which 2 B vitamins?
B6 (cysteine) and B12 (methionine)
This is an inherent defect of renal tubular amino acid transporter for cysteine, ornithine, lysine and arginine in the PCT of the kidneys
What is the clinical presentation of cystinuria?
what are the 4 amino acids involved in methylmalonyl coa mutase deficiency?
isoleucine, valine, threonine, methionine
Maple Syrup Urine Disease is deficiency in what enzyme?
alpha ketoacid dehydrogenase complex
What are the 3 branched amino acids involved in MSUD?
isoleucine, leucine, valine
Where is heme synthesis done?
mitochondria and cytoplasm
What is the rate limiting step of heme synthesis?
Glycine+Succinyl CoA -> Aminolevulinic acid ( ALA synthase)
What step in heme synthesis is inhibited by heavy metal ions that replace zinc?
Formation of porphobilinogen
What is the enzyme used in enhancing formation of heme?
What enzyme is needed for the conjugation of bilirubin to two molecules of glucoronic acid?
What 2 enzymes are inactivated by lead in lead poisoning?
ALA dehydratase and ferrochelatase
what is the description of RBC in lead poisoning?
microcytic, hypochromic anemia with basophilic stippling of RBC
Most common porphyria disorder?
porphyria cutanea tarda