Normalized MANE/map notationNM_018489.3:c.5138_5139del · NP_060959.2:p.Ser1713Cysfs*3 — The reviewed report uses NM_018489.2. NM_018489.2 and MANE Select NM_018489.3 use the same coding coordinate here, so c.5138_5139del and p.Ser1713Cysfs*3 map 1:1.
A girl in the 6–10 age group with strong social connection and a fluctuating history involving language access, motor planning, vision, movement, sensory regulation, illness-linked changes, ENT findings, and reported treatment-associated changes
Feeding, oral-motor function, palate, frenula, and teeth
A 2022 speech-language report summarized a 2021 feeding evaluation that described oral hypersensitivity to imposed input, reduced jaw strength and cheek use, and concern about tongue-jaw dissociation, possibly in relation to tethered tissue. Feeding therapy ended after approximately four months. A 2022 oral examination described restricted maxillary labial and lingual frenula and a high palate.
Her family recalls that, in infancy, she tired or repeatedly popped off during breastfeeding, took small bottle volumes with frequent feeds, and had substantial gas. They felt that a formula change at approximately three months improved the gas. Mild infant stridor was also reported and later resolved. These are family observations; no infant swallow study, aspiration diagnosis, or structural airway diagnosis is available.
Her family reports timely introduction of solids and straw drinking. Different family summaries place the first tooth at approximately 18–19 months, and the last primary tooth arrived by approximately age three. Before and during that period, the lack of incisors made a typical bite-and-pull pattern difficult, and she used a suck-based or “suck-munch-chew” compensation. Chewing became more typical after approximately four months of feeding therapy. The mild tongue ties were not released.
Her family reports no current swallowing or food-transport problem and describes her appetite and later growth as normal.
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Gastrointestinal history and stool testing
Her current history is not one of established chronic constipation. Her family reports daily or sometimes more frequent stooling, a normal appetite, and no ongoing feeding or swallowing problem; dairy or other diet changes have sometimes been associated with pebble-like stool despite continued bowel movements. In one later discussion, urology reportedly wondered whether stool could still be retained despite daily bowel movements, while GI reportedly disagreed. No imaging, cleanout record, or formal constipation diagnosis was available to resolve that difference. At approximately age three, diarrhea was the only physical symptom the family noticed during a period they report was later associated with a positive throat swab for streptococcal infection. During respiratory illnesses, coughing and mucus can also precipitate vomiting as described above.
The GI-MAP, collected in February 2023, reported the main listed pathogen, parasite, and virus sections as undetected. A separate part of the panel flagged H. pylori above the vendor threshold, several commensal or opportunistic quantities, elevated beta-glucuronidase and secretory IgA, anti-gliadin IgA above 500, normal calprotectin, and negative occult blood. This is a laboratory-developed functional stool PCR panel. Its vendor thresholds and handwritten annotations do not establish clinical H. pylori infection, celiac disease, microbiome causation, neuroinflammation, or an ASH1L-specific mechanism.
A Doctors Data stool study collected in March 2025 reported:
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Gastrointestinal history and stool testing
Measure
Result
Context shown on the report
Listed pathogen PCR
Negative
No listed pathogen detected
Pancreatic elastase
>500 µg/g
Reassuring against pancreatic insufficiency
Fecal fat
None detected
No fat detected
Carbohydrates
Negative
—
Occult blood
Negative
—
pH
6.5
—
Lactoferrin
1.9 µg/mL
Within the displayed range
Calprotectin
<10 µg/g
Within the displayed range
Lysozyme
677 ng/mL
High; displayed reference <500
Secretory IgA
289 mg/dL
Slightly high; displayed reference 30–275
The report used laboratory-developed testing, and pediatric reference and validation limitations affect interpretation. The mild lysozyme and secretory-IgA elevations do not by themselves diagnose colitis, chronic infection, immune dysregulation, or a cause of her neurologic or behavioral changes. The more conventional inflammatory, digestive, bleeding, and pancreatic markers on this panel were reassuring.
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Streptococcal illness, reported PANS/PANDAS, and illness-linked flares
Her family reports that at approximately age three, streptococcal infection went unrecognized for about ten days because she had no sore throat or fever. The visible changes were diarrhea, severe irritability, and marked mood shifts. A pediatric throat swab was reportedly positive, and the family recalls that three antibiotic courses were given before a test became negative. The original swab results and treatment records are not available.
Her family says this period marked the beginning of much more prominent behavioral and regulation changes. They report that a clinician subsequently made a PANS/PANDAS diagnosis and that an immunologist supported that framework. They have also reported that basal-ganglia inflammation was suspected. The original PANS/PANDAS or immunology assessment is unavailable, and the MRI transcription describes a structurally normal brain without a basal-ganglia abnormality.
Respiratory and viral illness is now described as the most reliable trigger. In one 2025 sequence, a cold reportedly progressed to a UTI while a severe neurobehavioral flare was underway. A later family letter also described worsening around influenza or another viral illness. Family observations include worsening balance, auditory and sensory processing, emotional regulation, rigidity, aggression or fight-or-flight behavior, school tolerance, and language or executive access, followed by a gradual return toward baseline. The family describes this as a recurring illness-linked flare pattern. It does not independently establish PANS/PANDAS criteria, autoimmune encephalitis, basal-ganglia inflammation, a cytokine disorder, or an ASH1L-specific immune mechanism.
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Tick-borne and related infectious testing
Across the available reports, Lyme and Bartonella testing was negative; the one distinct positive finding was an isolated relapsing-fever Borrelia genus IgG result in 2024.
Lyme IgM, IgG, and speciation negative; relapsing-fever Borrelia genus IgG and “TBRF Borrelia spp” reported positive; B. miyamotoi, B. hermsii, and B. turicatae negative; Babesia and Bartonella testing negative
October 2025
Lyme IgM and IgG negative by the laboratory’s IGX and CDC/NYS criteria; Bartonella FISH and species IgM/IgG panel negative
October 2025, separate laboratory
Bartonella henselae, B. koehlerae, B. quintana, and B. vinsonii berkhoffii IgG all below 1:32 and nonreactive
The isolated 2024 relapsing-fever Borrelia genus IgG result is distinct from a positive Lyme panel and does not, by itself, establish active infection. The available reports do not support describing Lyme or Bartonella as persistently positive, nor can they show that herbs cleared an infection. The clinical meaning of the TBRF result requires interpretation by the treating clinician in the context of exposure, symptoms, assay performance, and any confirmatory testing.
Urinary observations
Formal urine testing in 2023 was limited:
Tick-borne and related infectious testing — table 2
Date
Findings
June 2023
Specific gravity 1.010, pH 6.5, trace protein and leukocytes; blood, nitrite, glucose, and ketones negative; urine clear
July 2023
Specific gravity 1.015, pH 6.5, trace non-hemolyzed blood, 1+ protein, 2+ leukocytes; nitrite, glucose, and ketones negative; slightly cloudy
July 2023 culture
Mixed organisms; laboratory interpreted the clean-catch specimen as likely urogenital contamination and recommended recollection if clinically indicated
The July specimen did not establish a bacterial isolate. Trace blood appeared on that one dipstick, but recurrent hematuria is not documented, and the available testing does not establish chronic kidney or bladder disease.
In 2025, the family reports one urinary tract infection treated with cephalexin during a broader illness that began as a cold. The diagnostic urine result is not available. This supports one parent-reported treated UTI, not a history of recurrent culture-proven infection. No recurrent urinary, kidney, bladder, or continence disorder is established.
Viral, vaccine-antibody, autoimmune, and inflammatory testing
Testing in August 2023 included:
EBV quantitative plasma PCR: not detected;
HHV-6 IgM: <1:20, not detected;
HHV-6 IgG: 1:80, detected;
varicella IgG: 507.6 IV, positive;
rubella IgG: 16.5 index, positive; and
mumps IgG: 192 AU/mL, positive.
A single detected HHV-6 IgG titer indicates prior exposure or antibody and does not establish acute infection or reactivation. The positive vaccine-related IgG results indicate detectable antibody; they do not, by themselves, decide whether a booster is or is not appropriate.
ANA was <1:80 and negative in 2023. In 2025 it was 1:40 with a homogeneous pattern. The reporting laboratory noted that a low titer can occur in healthy individuals. Because the assays and reporting thresholds may differ, these results do not establish seroconversion or autoimmune disease.
An earlier family-transcribed Mycoplasma IgM value was 295 U/mL, below the report’s stated negative cutoff of 770. In 2024, ASO, DNase B, thyroid testing, and Mycoplasma serology were not abnormal. In 2025, ESR was 2, CRP was <3, ASO and DNase B were negative, and Mycoplasma serology was negative. These later results do not prove or disprove the family-reported streptococcal event at age three, and the record does not establish immune deficiency or chronic systemic inflammation.
Blood chemistry, carnitine, and other conventional laboratory findings
Selected formal results include:
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Tick-borne and related infectious testing — table 3
Period
Result
Context
August 2023
Free carnitine 14 µmol/L
Low; displayed reference 25–55
August 2023
Total carnitine 32 µmol/L
Low; displayed reference 35–90
August 2023
Esterified carnitine 18 µmol/L
Within displayed reference 4–36
August 2023
Esterified/free ratio 1.3
High; displayed reference 0.1–0.8
August 2023
Homocysteine 5.1 µmol/L
Within displayed reference 4.0–15.0
August 2023
Iron 81 µg/dL
Within range; hemolysis prevented calculation of TIBC and saturation
Date not independently confirmed
BUN 26 mg/dL with normal creatinine
High; displayed BUN reference 7–20; remainder of CMP and CBC broadly reassuring; the collection date was not independently confirmed in the available source
TWO REPORTED BUN RESULTS · ONE DATE NOT INDEPENDENTLY CONFIRMED
Two reported BUN values.
This display preserves the reported mg/dL values and interpretations. Only the October 2025 result has an independently confirmed date; the 26 mg/dL result's collection date remains unconfirmed. The list follows source-table order, not a confirmed chronology, and the two points do not establish a continuous trend.
Date not independently confirmed26 mg/dL
Above displayed 7–20 range
Oct 202517 mg/dL
Within the displayed range
The 2025 panel also reported copper, zinc, ceruloplasmin, magnesium, thyroid testing, vitamin B12, and homocysteine within their displayed ranges. No longitudinal hematology assessment is available to show whether the low white-cell and neutrophil values persisted.
Plasma catecholamines in 2023 were epinephrine 314 pg/mL, norepinephrine 524 pg/mL, dopamine <40 pg/mL, and total catecholamines 838 pg/mL. The individual epinephrine, norepinephrine, and dopamine values fell within the report’s pediatric supine limits for ages 3–15; the report did not provide a pediatric comparison range for the total. Collection posture was not preserved, and the norepinephrine analysis required dilution because there was insufficient specimen for undiluted testing. The report also warned that plasma values in small children are strongly affected by stress. These results should not be described as markedly elevated or used to diagnose dysautonomia.
Primary packed-red-cell and trace-element reports contained several minor deviations and warned about specimen contamination and interpretive limitations. The findings do not establish manganese or copper toxicity.
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Buccal mitochondrial-enzyme testing
A buccal-cell MitoSwab report signed in November 2023 recorded:
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Buccal mitochondrial-enzyme testing
Measurement
Result
Reported comparison
Total buccal protein
371 µg
—
Citrate synthase
27.63 nmol/min/mg
228% of control mean; above displayed reference 4.4–22
Complex IV/citrate synthase
0.118
38% of control mean; below displayed reference 0.15–0.6
Complex I/citrate synthase
6.0
88% of control mean; within displayed reference 3.4–11.9
Complex I/Complex IV ratio
51
Above displayed comparison 12.1–30.3
The central factual distinction is that the complex IV/citrate-synthase ratio was below the report’s range, while the complex I/citrate-synthase ratio was within range.
The report described buccal mitochondrial-enzyme testing as an evolving laboratory-developed assay, stated that it was not FDA approved, noted that complex-I validation was incomplete, and cautioned that buccal tissue may not represent other tissues. It recommended repeat testing within approximately six months; no repeat result was found in the reviewed materials. This assay alone does not diagnose mitochondrial disease or show that an ASH1L variant caused the enzyme pattern, low carnitine, movement, fatigue, or illness-linked changes.
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Folate-receptor, trace-element, lipid, hair-mineral, and neurotransmitter testing
The 2023 folate-receptor-antibody test did not show a detectable binding antibody. The blocking result was reported as “sFR/see below” because soluble folate receptor interfered with the assay; its clinical significance was unknown. This was not a positive folate-receptor-antibody result.
Additional nonstandard or functional testing included packed-red-cell and trace-element panels, a hair-tissue-mineral analysis, a Prodrome lipid report, a red-cell lipid panel, and urinary neurotransmitter testing. Some reports contained flagged values or proprietary pattern labels. The hair-mineral report used terms such as “slow oxidation” and “heavy metal toxicity” and included nonstandard detoxification and vaccine-avoidance recommendations; the lipid-vendor materials described their reports as educational or research use. These tests do not establish central neurotransmitter concentrations, heavy-metal toxicity, mitochondrial disease, neuroinflammation, prognosis, or an ASH1L-specific mechanism, and their recommendations are not validated ASH1L care guidance.
October 2024
Ferritin 22, vitamin D 34
Not identified as abnormal in the available report