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ORPHA:2209

Maternal phenylketonuria syndrome

low confidenceDisorder

Also known as: Hyperphenylalaninemic embryopathy · Maternal PKU syndrome · Maternal hyperphenylalaninemia · Phenylketonuric embryopathy

Publications

2,064

Trials

0

Interventional, condition-specific

Researchers

1,194

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare disorder of phenylalanine (Phe) metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, heart disease, facial dysmorphism and in non-phenylketonuric offspring of mothers with excess blood Phe concentrations.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (4)

hyperphenylalaninemic embryopathy · maternal PKU · maternal hyperphenylalaninemia · phenylketonuric embryopathy

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

2/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    2,064 matched papers (1,124 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPartial

    None under the specific name; 92 for broader category phenylketonuria

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

2,064

2,064 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

2,064 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

1,124 in the last 10 years · low confidence

Phrase hits: 2,064 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,194

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    MacDonald A9 papers · 2026

    Birmingham Children's Hospital, Steelhouse Lane, Birmingham B4 6NH, UK.

    Papers in Europe PMC
  2. 02
    Zhang Y6 papers · 2026

    Institute for Fetology, the First Affiliated Hospital of Soochow University, Suzhou City, Jiangsu 215006, China.

    Papers in Europe PMC
  3. 03
    Ahring K5 papers · 2026

    Department of PKU, Kennedy Centre, Glostrup, Denmark.

    Papers in Europe PMC
  4. 04
    Beblo S5 papers · 2024

    Hospital for Children and Adolescents, Center for Pediatric Research Leipzig (CPL), Department of Women and Child Health, University Hospital, University of Leipzig Leipzig Germany.

    Papers in Europe PMC
  5. 05
    Ford S5 papers · 2026

    Southmead Hospital North Bristol Trust, Bristol BS10 5NB, UK.

    Papers in Europe PMC
  6. 06
    Harding CO5 papers · 2023

    Oregon Health and Science University, Portland, OR 97239, United States of America.

    Papers in Europe PMC
  7. 07
    Thiele AG5 papers · 2024

    Hospital for Children and Adolescents, Center for Pediatric Research Leipzig (CPL), Department of Women and Child Health, University Hospital, University of Leipzig Leipzig Germany.

    Papers in Europe PMC
  8. 08
    van Spronsen FJ5 papers · 2026

    Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, PO BOX 30.001, 9700 RB, Groningen, The Netherlands. f.j.van.spronsen@umcg.nl.

    Papers in Europe PMC
  9. 09
    Andersen S4 papers · 2026

    Department of Clinical Medicine, Aalborg University, Aalborg, Denmark.

    Papers in Europe PMC
  10. 10
    Andersen SL4 papers · 2026

    Department of Clinical Biochemistry, Aalborg University Hospital, Aalborg, Denmark.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial. 92 trials are registered for phenylketonuria, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

low confidence · 36.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

92 interventional trials matched phenylketonuria, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: phenylketonuria

92

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

Observational and natural-history studies

1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

India — NPRD

Last verified 2026-07-26

Likely covered — the policy lists Phenylketonuria (PKU) as a category (Group 2), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.

Group 2 — long-term / lifelong lower-cost interventions

NPRD envisages State Government support for dietary formulae, hormones, and other lower-cost interventions. This is a different route from the central CoE ₹50 lakh pathway; ask your state health department and a CoE which channel applies.

Central CoE funding may also apply depending on current rules — confirm with a notified Centre of Excellence. Do not assume the ₹50 lakh ceiling covers Group 2 by default. Verify

Centres of Excellence (15)
  • All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
  • Maulana Azad Medical College — New Delhi, Delhi
  • Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
  • Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
  • Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
  • King Edward Memorial Hospital — Mumbai, Maharashtra
  • Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
  • Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
  • Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
  • All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
  • Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
  • All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
  • Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
  • All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
  • Assam Medical College & Hospital — Dibrugarh, Assam

Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"Maternal phenylketonuria syndrome" OR "Hyperphenylalaninemic embryopathy" OR "Maternal PKU syndrome" OR "Maternal hyperphenylalaninemia" OR "Phenylketonuric embryopathy" OR "maternal PKU"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Maternal phenylketonuria syndrome" OR "Hyperphenylalaninemic embryopathy" OR "Maternal PKU syndrome" OR "Maternal hyperphenylalaninemia" OR "Phenylketonuric embryopathy" OR "maternal PKU"

Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"phenylketonuria"

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (2064) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T19:28:29.027Z