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I wonder if the disease I invented is realistic or a total fiction.

In a white drama/lighthearted tragedy (the opposite of black comedy/dark humour) web-series for a teen audience in mind I want to create, The Transcendence of Adolescence, there is a 13 years old asexual transgender man named Adolfo Pedro Ramirez that has a strange genetic disease: he is completely unable to produce adrenaline (or epinephrine, if you want). Because of his bizarre syndrome, A. P. Ramirez is stoic as a cat (which is somewhat ironic, because both humans aged from 2 to 5 years old and humans aged from 10 to 17 years old are famous for being extreme mood-swingers). What I mean is he is unable to feel anger, and has no known phobias, but at least, he still can feel sadness, disgust, and joy (I said he was a trans man, so he was gender dysphoric, and by extension, he was often sad and disgusted before transitioning) (sorry for my Disney/Pixar's Inside Out reference).

If this genetic disease exists, what is its mode of inheritance? Autosomal dominant (like type 1 von Willebrand disease), autosomal recessive (like cystic fibrosis), X-linked dominant (like X-linked pituitary gigantism), X-linked recessive (like Hunter syndrome), incomplete dominance (like myostatin-associated muscular hypertrophy), or mitochondrial (like Leigh syndrome)?

If this is autosomal, what chromosome is linked? Chromosome 1 (like Hutchinson-Guilford progeria), chromosome 2 (like Ehlers-Danlos syndrome), chromosome 3 (like retinitis pigmentosa), chromosome 4 (like achondroplasia), chromosome 5 (like Sotos syndrome), chromosome 6 (like hemochromatosis), chromosome 7 (like tritanopia), chromosome 8 (like Werner syndrome), chromosome 9 (like cartilage-hair hypoplasia), chromosome 10 (like type 2 multiple endocrine hyperplasia), chromosome 11 (like sickle-cell anaemia), chromosome 12 (like phenylketonuria), chromosome 13 (like Wilson disease), chromosome 14 (like Krabbe disease), chromosome 15 (like Marfan syndrome), chromosome 16 (like Morquio syndrome), chromosome 17 (like type 1 neurofibromatosis), chromosome 18 (like type-C Niemann-Pick disease), chromosome 19 (like Donohue syndrome), chromosome 20 (like adenosine deaminase deficiency), chromosome 21 (like autoimmune polyendrocrinopathy-candidiasis-ectodermal-dystrophy), or chromosome 22 (like type 2 neurofibromatosis)?

I know I made an extremely long enumeration because the vast majority of the human genome is nuclear and autosomal, sorry.

Naturally, except for being more or less Zen, what would be the health consequences of being unable to produce adrenaline? Would people with this genetic syndrome be resistant to noninfectious heart diseases? Therefore, would they live longer?

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    $\begingroup$ Adrenaline is made from noradrenaline by the phenylethanolamine N-methyltransferase (PNMT) enzyme. PNMT is encoded on chromosome 17. It also makes other things, such as N-methylphenethylamine (NMPEA), but its main use is to make adrenaline. Noradrenaline is a major and adrenaline is a minor neurotransmitter, so you cannot have Adolf completely unable not make any. $\endgroup$
    – AlexP
    Commented Mar 17, 2022 at 18:31
  • $\begingroup$ That is Adolfo, not Adolf. $\endgroup$ Commented Mar 17, 2022 at 18:32
  • $\begingroup$ @GaultDrakkor: Having undetectable circulation levels of adrenaline is different from not being able to make adrenaline at all. (And circulatory adrenaline is made in a different structural part of the adrenal glands from the cortisol etc. which are deficient in adrenal insufficiency.) $\endgroup$
    – AlexP
    Commented Mar 17, 2022 at 18:35
  • $\begingroup$ @AlexP Agreed that low is not none. However I believe the symptoms and other descriptions for low would be closer to none then complete wild guess. $\endgroup$ Commented Mar 17, 2022 at 18:39
  • $\begingroup$ Adolfo is the Italian form, Adolf is the English / German / Romanian form. And anyway, in French it is usually written Adolphe. Adolphe-Pierre Ramirez. (If you insist in sticking to the Spanish form of the name even when writing in another language, then it is Ramírez with an acute on the í. Spanish spelling associates different pronunciations to Ramírez and **Ramirez.) $\endgroup$
    – AlexP
    Commented Mar 17, 2022 at 18:41

2 Answers 2

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Yes!

Not only realistic, but totally real!

It's very rare, but there are a (literal) handful of sufferers of Polyglandualr Addisons Disease who do not produce adrenaline. One well known in the UK is Jennifer Lloyd, possibly best known as the girl who could die from watching a horror movie.

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    $\begingroup$ Addison's disease is generally a loss of adrenal cortex function - cortisol and aldosterone. Adrenaline is a product of the adrenal medulla and of the sympathetic nervous system. $\endgroup$ Commented Jun 10, 2022 at 22:27
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It would have far-reaching effects

Adrenaline and noradrenaline (= epinephrine and norepinephrine) are the major neurotransmitters of the sympathetic nervous system. If you remove one but compensate with the other, the effect would be more subtle, but if you remove both of them ... this has been done in a mouse. Effects include death in utero, perhaps due to a failure to speed up the heart rate when needed. If the mother's hormones compensate, the pups can live, but will have impaired vasoconstriction, failure to generate heat in brown fat on command (but a higher overall basic metabolic rate), effects on memory and maternal instinct, etc. There are some fairly obvious consequences that I'd expect which are not mentioned in that article - the sympathetic nervous system controls sweating and the iris and ciliary muscle (lens) function of the eye, for example.

In humans with lesser defects in production of these compounds, the most noticeable effect seems to be orthostatic hypotension - they feel faint when standing up. Normally we rely on the sympathetic nervous system to constantly "budget" our blood flow, constricting arterioles in one place so that there is sufficient pressure in another. Reducing that capacity to react to conditions means the overall blood pressure can fall unexpectedly over the course of a few seconds as you change position.

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