Term
|
Definition
| TCA intermediates, pyrivate, acetyl CoA, acetoacetate |
|
|
Term
|
Definition
| AA that turns into pyruvate or a TCA intermediate |
|
|
Term
| in general, what does a glucogenic AA cause to happen |
|
Definition
| net glucose increase when their broken down |
|
|
Term
|
Definition
| AA that can turn into acetoacetate (ketone body) or acetoacetate precursor (acetyl CoA, acetoacetyl CoA) |
|
|
Term
|
Definition
| phenylalanine hydroxylase deficiency |
|
|
Term
| what does phenylalanine hydroxylase do |
|
Definition
| turn phenylalanine into tyrosine |
|
|
Term
| what happens in a phenylalanine hydroxylase deficiency |
|
Definition
| phenylalanine rises in tissues and so do ites metabolites, and its metabolites get into urine and give it a musty odor |
|
|
Term
| what disease does a tetrahydrobiopterin deficiency cause, why |
|
Definition
| PKU, because it converts AA into neurotransmitters |
|
|
Term
| what are some examples reactions that tetrahydrobiopterin has a role in |
|
Definition
| tyrosine to catecholamines, tryptophan to seritonin |
|
|
Term
| how can a tetrahydrobiopterin deficiency be treated |
|
Definition
| replace tetrahydrobiopterin or the neurotransmitters |
|
|
Term
| what is the biggest symptom of PKu |
|
Definition
|
|
Term
|
Definition
| deficiency in branched chain a-ketoacid DH |
|
|
Term
| what does a deficiency in branched chain a-ketoacid DH cause |
|
Definition
| prevents catabolism of isoleucine, leucine, valine |
|
|
Term
| what gives people with MSUD smelly pee |
|
Definition
| accumulation of branched chain aA in urine |
|
|
Term
| what happens if MSUD isnt treated |
|
Definition
|
|
Term
| what is another way to cause MSUD |
|
Definition
| branched chain a-ketoacid DH uses thiamine as a cofactor so if thiamine is low it causes a non-classic form of MSUD |
|
|
Term
|
Definition
| defect in conversion of tyrosine to melanin |
|
|
Term
| what causes complete albinism |
|
Definition
|
|
Term
| what is the most severe form of albinism |
|
Definition
|
|
Term
| what are the symptoms of complete albinism |
|
Definition
|
|
Term
| what is a symptom of albinism |
|
Definition
| increased risk of skin cancer |
|
|
Term
| what causes homocyetinuria |
|
Definition
| cystathionine b-synthase defect |
|
|
Term
| what are the symptoms of homocyetinuria |
|
Definition
| displacement of lens of eye, skeletal abnormalities, mental retardation, early and severe atherosclerosis |
|
|
Term
| what is the result of a cystathionine b-synthase defect |
|
Definition
| homocystine builds up in the blood and reacts with LDL damaging it causing athlerosclerosis |
|
|
Term
| what is the treatment for homocystinuria |
|
Definition
| limit methionine, suppliment B6, B12, folate |
|
|
Term
| what other defects are elevated homocystine or low folate associated with |
|
Definition
|
|
Term
| what can mild homocystine elevations be due to |
|
Definition
| normal metabolic enzyme variations |
|
|
Term
|
Definition
| homogentisate oxidase deficiency |
|
|
Term
| what are the symptoms of alkaptonuria |
|
Definition
| mostly benign, urine tirns black after standing for a long time due to oxidation of homogentistic acid in urine, black pigmentation of cartilage, severe arthritis |
|
|
Term
| what is the treatent of alkaptonuria |
|
Definition
| low protein diet, especially phenalalanine and tyrosine) |
|
|
Term
| what are the effects of methionine |
|
Definition
| methyl donor in metabolism |
|
|
Term
| what are the effects of arginine |
|
Definition
| part of uea cycle, NO precursor |
|
|
Term
| what are the effects of glutamine |
|
Definition
| transport of ammonia, precursoe for nucleotides |
|
|
Term
| what are the effects of histadine |
|
Definition
|
|
Term
| what are the effects of tryptophan |
|
Definition
|
|
Term
| what are the effects of tyrosine |
|
Definition
|
|
Term
| what are the effects of alanine |
|
Definition
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