Week 6 Flashcards
A concerned mother brings her 3 year old boy to the pediatric ER because he was vomiting her breast milk. The child is urinating regularly, but the urine has a particular odor of pancake syrup. The child shows no fever, but his muscle tone is rigid on physical examination. Lab work indicated metabolic acidosis, prompting physicians to admit him to the PICU. What is the most likely underlying enzyme deficient in this patient?
a-keto acid dehydrogenase
If not quickly removed from neuronal synapse, this neurotransmitter is highly neurotoxic. It is transported into neighboring glial cells to be converted to a non-toxic intermediate, recycled back to the presynaptic neuron and the converted once again to the neurotransmitter.
glutamate
A 14 day old male patient comes into the emergency room with tachypnea, and unresponsive lethargy. You suspect an in-born error in metabolism. Lab tests show metabolic acidosis. Your primary concern in the treatment of the patient after stabilizing him is…
treat primary imbalance
In patients with phenylketonuria, the disease phenotype is due to this defective enzyme…
phenylalanine hydroxylase
A genetic defect of _____ leads to congenital immunodeficiency.
adenosine deaminase
Parkinson’s Disease is associated with the loss of neurons containing a specific catecholamine neurotransmitter.
dopamine
Metabolic disorders are caused by one of the following mechanisms…
deficient enzyme
This precursor of heme is most likely responsible to cause neuro-psychiatric symptoms?
porphobilinogen
What is the common precursor in the synthesis of purines?
IMP
This organ is responsible for the catabolism of catecholamines…
liver, kidneys
Malnourished children that are weaned prematurely to a rich in starch diet develop…
kwashiorkor
Impaired glucoronyl transferase activity is observed in all of the following, except…
Dubin Johnson Syndrome
A teenager is brought to the ER because of an attempt of suicide. She appears underweighted at 52kg and was estimated to consume >3g of acetaminophen pills. She is hardly able to speak clearly and exhibits jaundice and yellowing of the eye sclera. What cells are most affected due to this intoxication?
Parenchymal Hepatocytes
What enzyme of heme synthesis is responsible for catalyzing the rate limiting step of heme synthesis?
ALA Synthase
What neurotransmitter that is considered an oligopeptide…
enkephalin
A protein synthesis inhibitor will prevent the synthesis of which neurotransmitter?
enkephalin
What substances have color?
uroporphyrin
As a primary care physician, you are evaluating a 6 year old male patient diagnosed with MCAD. You notice he is lethargic during evaluation. You refer him to the emergency department with medical orders. The main concern to stabilize him is by accomplishing…
initiate glucose 10% continuous infusion
In mammalian cells, heme synthesis….
porphobilinogen is formed by the condensation of two molecules of delta-aminolevulinic acid
The onnly relevant pathology in the synthesis of pyrimidines is known as orotic aciduria. The most likely explanation is because…
other pathologies are not seen because affected embryos are aborted
