Reproducible Neurological Remission During Fasting Suggests Metabolic Etiology in Undiagnosed UK Patient ('Rich')

Update - 29 September 2025 Saturday was spent out shopping and at the barbers. He was able to engage and take control in situations, the like of which is only seen when he is VSED. We were out for over six hours. His symptoms are still in remission (see below) but he is getting weaker. Rich undertook VSED (nil by mouth) for ~3–4 days, during which neurological symptoms fully remitted. From Day 3–5.5 he consumed only water, electrolyte solution, and the occasional hot chocolate, remaining in a presumed ketogenic state. On Day 5.5, plain scrambled eggs (4–6/day) were introduced and were well tolerated, with continued absence of spasms and improved sleep. Clinical Significance:The patient’s remission is sustained while in ketosis, with balanced amino acid intake (eggs) tolerated only once ketosis is established. This strongly suggests symptoms are driven by a metabolic block exacerbated by normal feeding, but buffered under ketogenic conditions. The current intake is nutritionally unsustainable, highlighting the urgency of diagnostic clarification and supervised dietary intervention. He is reluctant to resume a "normal" diet (even a ketogenic one) due to his symptoms being likely to return as they have in the past. Update on Rich’s current state - 27 September 2025 We’re in the middle of another VSED period (this time with electrolyte water, but no food). The past week has been dramatic:– Saturday: up and about.– Sunday & Monday: bedridden. On Monday, after lunch, he decided he couldn’t take it any longer and stopped food and water.– Tuesday: still exhausted but managed an evening in the lounge.– Wednesday: completely different person — spasms gone, speech almost normal, tremor barely visible, full of energy. Up early, working in the garden, no 4 a.m. “wake-up” spasms.– Thursday onwards: taking electrolyte water only. Spent whole days working on cars, cleaning the patio, repotting plants. Slept through the night. Yesterday even managed a shower — first in months. Today he’s well enough to go to actually leave the house and wants to go to the barbers. This is brutal to watch: the same body that is near-bedbound when fed becomes almost symptom-free when unfed. He now believes, more than ever, that what’s happening is not “in his head” but in his body. I have suspected this for a long time but now he is on board with the idea too. We’re documenting everything carefully, including laboratory tests, because these state-dependent changes may hold the key to understanding not just Rich’s illness but others like it. If you’re a clinician or researcher with an interest in metabolic or mitochondrial disorders, or if you’ve seen similar fasting-responsive cases, please get in touch: [email protected] Update - 25 September 2025 Recent plasma amino acid analysis shows a pattern of selective abnormalities: Elevated Glycine: 507 µmol/L (ref 141–362) Ornithine: 150 µmol/L (ref 39–120) Glutamine: 569 µmol/L (ref 403–760, high-normal) Reduced Tyrosine: 29 µmol/L (ref 41–101) Alanine: 198 µmol/L (ref 219–566) Methionine: 10 µmol/L (ref 14–36) Phenylalanine: 37 µmol/L (ref 38–84, borderline low) Normal Lactate: 1.0 mmol/L (ref 0.5–1.9) Ammonia: 21 µmol/L (ref 1–49, measured previously) Free carnitine: 33 µmol/L (ref 13–52) Creatine kinase: 93 U/L Clinical Significance This profile is not typical of “metabolic syndrome” in the conventional sense (obesity/insulin resistance). The abnormalities suggest a disturbance of amino acid metabolism, urea cycle, or mitochondrial energy handling: High glycine – may reflect mitochondrial dysfunction or rare glycine-cleavage pathway abnormalities. High ornithine – often associated with urea cycle perturbation, although ammonia remains normal. Low alanine – could indicate impaired gluconeogenesis or altered nitrogen shuttling. Low tyrosine/methionine/phenylalanine – raises the possibility of reduced availability or impaired conversion pathways. Update - 21 September 2025 Rich’s history remains characterised by severe, progressive neurological and systemic symptoms, with reproducible remission during nil-by-mouth (VSED) periods. Importantly, this clinical pattern is now mirrored in his biochemistry: Persistent hyperbilirubinaemia has been present on virtually every test since 2011, yet normalised only once — on 7 March 2025 (bilirubin 7 µmol/L). This “normal” result occurred immediately after a prolonged period of nil by mouth (04–11 Feb and 13–18 Feb 2025), during which his symptoms remitted. After that time, he was eating a clean ketogenic diet. On refeeding (8 April 2025), bilirubin rose again (26 µmol/L). This reproducible fasting → remission → normalisation, followed by refeeding → relapse → abnormality, is highly unusual and strongly supports a metabolic basis for his condition. GPs repeatedly described Richard’s blood results as “normal,” but historic review shows this is inaccurate. Individually, the abnormalities were often borderline and therefore dismissed. Viewed longitudinally, however, they reveal a chronic, state-dependent disturbance consistent with mitochondrial or metabolic dysfunction. He remains very poorly and in need of answers. Updated - now including stats re VSED This case study outlines a 34-year history of debilitating neurological symptoms in a 50-year-old UK male (‘Rich’, pseudonym used), with profound improvement during prolonged fasting (VSED). A strict ketogenic diet offers modest benefit; however, refeeding—particularly carbohydrates or protein—triggers relapse. MRI and EEG are normal. One additional remission occurred after an accidental MCT oil overdose. These reproducible metabolic patterns, in the absence of psychiatric markers, strongly suggest a missed mitochondrial or neurometabolic disorder. Full clinical history, timeline, and references included. If you’re a clinician, researcher, or have seen similar cases, I’d welcome any feedback or insight: [email protected] I would love to discuss this with someone who is familiar with this remarkable effect of NBM