Clinical Presentations- AA Derivatives Disorders
Deficiency in this enzyme results in reduced production of epinephrine.
Bonus: Often observed in skin cells of patients with this disorder.
What is phenylethanolamine N-methyltransferase?
What is vitiligo?
These two in-born errors of creatine biosynthesis result in low levels of creatine and creatinine in the urine.
Bonus: what is the inheritance pattern of these disorders?
What are AGAT and GAMT deficiency?
Bonus: autosomal recessive
A deficiency in this enzyme as an infant may result in intellectual disability, speech problems, ADD, depression, anxiety, or OCD.
What is tyrosine hydroxylase?
[Note: the symptoms listed are from infantile parkinsonism]
The inflammatory molecule responsible for your seasonal allergies is derived from this amino acid (Gracie's favorite amino acid actually :) )
500 bonus points if you explain why histidine is awesome
What is histidine?
Histamines, molecules involved in allergic responses, are derived from histidine via the enzyme histidine decarboxylase.
Diarrhea, dementia, "broad collar" rash, and hyperpigmentation of sun exposed limbs can be caused by this amino acid and/or this vitamin.
Niacin and tryptophan (symptoms described are due to niacin deficiency aka pellagra)
Low levels of an inhibitory neurotransmitter derived from this amino acid has been linked to anxiety.
Bonus (100 pts): Which neurotransmitter?
What is L-Glutamate?
The neurotransmitter is gamma-aminobutyric acid (GABA)