The case report concerns a gentleman with sepiapterin reductase deficiency, a genetic condition which prevents the production of the enzyme sepiapterin reductase which is essential in the synthesis of both dopamine and serotonin.
The most widely recognised symptoms of the condition, linked to the deficiency in dopamine which has an important role in controlling movement, are problems coordinating both conscious movements and the unconscious control of muscles that allows simple actions. Unconscious control requires that the brain signals one muscle to contract while releasing the complementary muscle, and problems with this process cause spasticity.
The effects the condition on serotonin, often stereotyped as the ‘happy chemical’, are less well known, but in this case it was clear that the patient wasn’t depressed but did some other difficulties:
These included increased appetite – he ate constantly, and was moderately obese – mild cognitive impairment, and disrupted sleep:
“The patient reported sleep problems since childhood. He would sleep 1 or 2 times every day since childhood and was awake during more than 2 hours most nights since adolescence. At the time of the first interview, the night sleep was irregular with a sleep onset at 22:00 and offset between 02:00 and 03:00. He often needed 1 or 2 spontaneous, long (2- to 5-h) naps during the daytime.”
After doctors did a genetic test and diagnosed SRD, they treated him with 5HTP, a precursor to serotonin. The patient’s sleep cycle immediately normalized, his appetite was reduced and his concentration and cognitive function improved (although that may have been because he was less tired)…
Overall, though, the biggest finding here was a non-finding: this patient wasn’t depressed, despite having much reduced serotonin levels. This is further evidence that serotonin isn’t the “happy chemical” in any simple sense.
This is another piece of evidence against the common myth that depression is “caused by low serotonin” although Neuroskeptic speculates whether the link between disrupted sleep and depression may indicate an effect of serotonin dysfnction.