Remaining in-substrate perturbations (dyssynergic defecation, Hirschsprung, MODY, hepatic GSD-I, autoimmune gastritis)

This section closes the in-substrate digestive Tier-1 surface by REUSE — no new primitive, no sibling package. Dyssynergic defecation reads the §16 gate at the anorectal outlet (the bolus retained when the outlet stays closed while propulsion is intact — gate, not drive); Hirschsprung is a §4 segmental aganglionic block with proximal dilatation; MODY a targeted §12 secretory lesion giving a distinct, regulated curve unlike the type-1 runaway; hepatic GSD-I a crippled §6 glycogen-buffer release giving fasting hypoglycaemia and failed counter-regulation; autoimmune gastritis the §22 corpus-localised flare dropping barrier and acid together. The three monogenic items are gene-key → disease_wp [V]; felt and absorptive magnitudes [O].

This section closes the in-substrate digestive Tier-1 surface (FUTURE_WORK §1A–§1D) — the disorders the roadmap had left enumerated are built here, each by REUSE of a module or primitive this volume already validated, with no new substrate primitive and no sibling package. Dyssynergic defecation reads the §16 sphincter gate at the anorectal outlet (the achalasia mirror at the far end of the gut): the outlet gate is tonically closed and should open on the coordinated defecatory relaxation against the propulsive push, and in dyssynergia that relaxation fails (or the floor paradoxically contracts) so the gate stays closed and the bolus is retained despite a fully intact propulsive drive — the lesion is the gate, not the drive, the falsifiable distinction from colonic inertia. Hirschsprung disease is the motility consequence of a distal aganglionic segment with no slow-wave oscillator (the §1-emergence reading): on the §4 transport mechanics the bolus cannot be propagated through the dead segment, so aboral clearance is blocked progressively as the segment lengthens, the deep aganglionic zone is never traversed, and the bolus is retained proximal at the transition zone — the proximal dilatation above the narrowed segment. MODY is a targeted partial β-secretory-capacity lesion on the §12 homeostat (PDX1/HHEX-linked) that settles a distinct, stable, fully-regulated elevated curve — the meal load returns to the mildly raised fixed point — clearly distinct from the §12 type-1 catastrophic runaway. Hepatic glycogen storage disease type I (glucose-6-phosphatase deficiency) is read on the §6 counter-regulation: the hepatic glycogen buffer cannot release free glucose, so fasting glucose drifts into hypoglycaemia and a hypoglycaemia challenge can no longer be returned to the setpoint (the failed counter-regulation). Autoimmune gastritis reads the §22 relapsing-inflammation flare corpus-localised: a sustained autoimmune drive drops the corpus §7 barrier and the acid output together (a regional, achlorhydric lesion distinct from antral H. pylori), driver suppression recovering both. Every phenotype emerges under wide sweeps and is never fitted; the three monogenic items (Hirschsprung RET, MODY PDX1/HHEX, GSD-I G6PC) are gene-key, owned by disease_wp with the consequence dynamics owned here and cross-referenced both ways; the gene links are cited from DNA [L]; and the felt straining/abdominal sensations (mind), the absolute evacuation/transit/glucose scales, the B12/iron malabsorption magnitude (an absorption layer), and the autoimmune-gastritis carcinoid boundary (disease_wp) are [O] with stated obstacles.

This section closes the in-substrate digestive Tier-1 surface: the remaining disorders the roadmap (FUTURE_WORK \u00a71A\u2013\u00a71D) had left enumerated are built here, each by REUSE of a module or primitive this volume already validated \u2014 no new substrate primitive and no sibling package. Five readings, all emergent under wide sweeps, never fitted: the \u00a716 gate read at the anorectal outlet (dyssynergic defecation), the \u00a74 transport with a segmental aganglionic lesion (Hirschsprung), the \u00a712 homeostat with a targeted secretory lesion (MODY), the \u00a76 counter-regulation with a crippled glycogen buffer (hepatic GSD type I), and the \u00a722 relapsing-inflammation flare read corpus-localised (autoimmune gastritis). Three of the five are monogenic: their gene lesion is owned by disease_wp (gene-key) and the consequence dynamics are owned here \u2014 an imported-lesion seam cross-referenced both ways.

Dyssynergic defecation reads the \u00a716 sphincter gate at the anorectal outlet \u2014 the achalasia mirror, at the other end of the gut. The outlet gate is tonically closed and should open on the coordinated defecatory relaxation (the rectoanal inhibitory reflex plus voluntary external-sphincter relaxation) against the propulsive push; in dyssynergia that relaxation fails, or the floor paradoxically contracts, so the gate stays closed and the bolus is retained despite normal propulsion. As the relaxation competence falls the gate clears at full drive but stays shut below it (the bolus retained), and a rising paradoxical outlet tone shuts it the same way. Crucially the propulsive drive is intact (propulsion_intact_pct = 100.0%) \u2014 the lesion is the gate, not the drive, the falsifiable distinction from colonic inertia (\u00a714, a drive collapse):

Hirschsprung disease is read as a motility consequence: a distal aganglionic segment has no slow-wave oscillator (the \u00a71-emergence reading \u2014 a segment whose gene lesion prevents oscillator emergence carries zero contraction amplitude), so on the \u00a74 mechanics the bolus cannot be propagated through it. A normal uniform gut advances the bolus to the distal end (net displacement 13.0, the distal-most cell reached); an aganglionic distal segment blocks aboral clearance progressively as the dead segment lengthens, never traverses the deep aganglionic zone (the distal-most cell stays empty), and the bolus is retained at the transition zone \u2014 the proximal dilatation (megacolon) above the narrowed aganglionic segment. The RET-aganglionosis gene lesion is owned by disease_wp; the \u00a71+\u00a74 consequence is owned here:

MODY (maturity-onset diabetes of the young), a single-gene defect, is a targeted partial \u03b2-secretory-capacity lesion on the \u00a712 homeostat (PDX1/HHEX-linked). Unlike the \u00a712 type-1 axis \u2014 capacity depleted toward zero into an accelerating, catastrophic runaway (deepest fasting 11.11 mM, setpoint lost) \u2014 the MODY lesion settles a distinct, stable, fully-regulated elevated curve: at the operating point (beta_frac = 0.45) fasting is 6.10 mM, the meal peak 10.14 mM, and the load returns to the (mildly raised) fixed point (final = 6.10 mM) \u2014 the monogenic, stable, often-mild phenotype. The PDX1/HHEX gene subtype is gene-key (\u2192 disease_wp; the gene link is cited from DNA); the \u00a712 trajectory is owned here.

Hepatic glycogen storage disease type I (von Gierke, glucose-6-phosphatase deficiency) is read on the \u00a76 counter-regulation: the hepatic glycogen buffer (the HHEX role) cannot release free glucose \u2014 glycogenolysis and gluconeogenesis both fail \u2014 so the hepatic-output arm is crippled. The consequence is the hallmark fasting hypoglycaemia: a normal liver holds glucose at the setpoint, but with the output crippled the uptake outpaces hepatic production and glucose drifts down, crossing the cited 3.9 mM alert value as the output falls; and a hypoglycaemia challenge can no longer be returned to the setpoint (the failed counter-regulation, counter_regulation_fails_when_buffer_crippled = True). The G6PC / enzyme gene is gene-key (\u2192 disease_wp); the \u00a76 consequence is owned here:

Autoimmune gastritis reads the \u00a722 relapsing-inflammation flare corpus-localised. A sustained anti-parietal autoimmune drive ignites a corpus flare past the R19 spinodal, whose cumulative burden lowers the \u00a77 fate-stability scale of the corpus (a regional barrier lesion: corpus barrier 1.000 \u2192 0.382) and \u2014 the parietal-cell-loss consequence \u2014 drops the acid output, which tracks the intact corpus/parietal scale (achlorhydria, acid_output_coupled_to_corpus_barrier = True). This corpus-restricted, achlorhydric signature distinguishes it from \u00a713 antral H. pylori gastritis (acid preserved / raised). Suppressing the autoimmune driver past the induction threshold reverts the flare and the corpus barrier and acid recover (the treatment direction). Common / acquired (HLA-linked, not single-gene) \u2014 so this one is owned here in full.

Treatment (model reading). Each disorder carries its own target. Dyssynergic defecation: Dyssynergic defecation -- RETRAIN the coordinated relaxation (anorectal biofeedback): restore the gate-open transition / lower the paradoxical outlet tone so the (intact) propulsive push again clears the gate -- the same force-the-gate-open lever as achalasia, at the outlet. Because the DRIVE is normal, the model predicts drive-raising agents (stimulant laxatives / prokinetics) do NOT fix a closed outlet -- the falsifiable distinction from colonic inertia (a s14 drive collapse, where they DO help). Direction [V]; absolute evacuation fraction and biofeedback response rate [O]. Hirschsprung: Hirschsprung disease -- the model lever is restoring an OSCILLATING distal segment: clinically the aganglionic segment is resected and the ganglionic bowel pulled through (surgical, out-of-model for parameter therapy). The model's CONSEQUENCE reading shows why the obstruction is functional-at-a-fixed-segment (a patent but non-propagating distal zone) and why the proximal bowel dilates above it. The RET-aganglionosis gene lesion is owned by `disease_wp` (gene-key); the s1-emergence + s4 transport consequence is owned here. Direction [V]; the gene lesion and surgical specifics [L]/`disease_wp` and [O]. MODY: MODY -- the model lever RAISES the residual beta-secretory capacity (the secretory term), NOT insulin sensitivity: the lesion is a secretory deficit, so a beta-cell secretagogue is the model-consistent target (mirroring the classic sulfonylurea responsiveness of HNF1A/4A MODY), distinct from the s12 type-2 insulin-resistance lever. The gene-specific mapping is cited from DNA and owned by `disease_wp` (gene-key). Direction [V]; gene link [L]; absolute glucose levels and the per-subtype therapy [O]/`disease_wp`. Hepatic GSD-I: Hepatic GSD-I -- the model lever is CONTINUOUS exogenous glucose supply (uncooked cornstarch / frequent feeds / overnight drip): because the endogenous RELEASE arm is broken, the model cannot restore hepatic output, so maintaining euglycaemia requires supplying glucose from outside -- NOT a counter-regulation booster (glucagon is ineffective exactly because the release arm is the lesion, a model-consistent prediction). The G6PC / enzyme gene is owned by `disease_wp` (gene-key); the s6 counter-reg consequence is owned here. Direction [V]; absolute fasting tolerance and feeding schedule [O]. Autoimmune gastritis: Autoimmune gastritis -- the model lever SUPPRESSES the autoimmune driver (the s22 flare lever): past the induction threshold the corpus flare reverts and the corpus barrier + acid output recover. In practice the dominant management is REPLACING the malabsorption consequence -- B12 (and iron) for the achlorhydria-driven pernicious anaemia -- which is an out-of-model absorption-layer effect, and endoscopic surveillance (the achlorhydria-driven ECL hyperplasia -> type-1 gastric carcinoid risk is the s21 out-of-kernel neuroendocrine boundary, `disease_wp`). Direction [V]; absolute acid loss, the B12 magnitude, and the carcinoid risk [O].

Every emergent mechanism here is forced by the substrate [V]: the gate-at-the-outlet retention with the drive intact, the segmental block with proximal retention, the distinct regulated MODY curve, the GSD fasting drift and failed counter-regulation, and the corpus barrier and acid drop. The PDX1/HHEX and G6PC gene links are cited from DNA [L] and the three monogenic items are gene-key (\u2192 disease_wp, cross-referenced both ways). What stays open [O], each with its obstacle: the felt straining / incomplete-evacuation and abdominal sensations (afferent-gain / mind), the absolute evacuation / transit / glucose scales (model units needing clinical calibration), the B12 / iron malabsorption magnitude of autoimmune gastritis (an absorption layer), and the autoimmune-gastritis carcinoid boundary (the \u00a721 out-of-kernel neuroendocrine boundary, disease_wp).