Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report.

Journal of medical case reports - 23 Feb 2026

Schacht Gabriel, Elbracht Miriam, Minder Anna-Elisabeth, Stauch Thomas, Stoppe Arzu, Lausberg Eva, Häusler Martin

Abstract excerpt

BACKGROUND: Heterozygous mutations of the hydroxymethylbilane synthase gene can lead to acute intermittent porphyria, with episodic abdominal pain and neuropsychiatric symptoms. The heme precursors 5-aminolevulinic acid and porphobilinogen accumulate due to enzyme deficiency. Case reports of biallelic pathogenic hydroxymethylbilane synthase gene variants are very rare. METHODS: This case report presents a...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aminolevulinic Acid
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hydroxymethylbilane Synthase

Share to Leukoencephalopathies

Share to Mutation

Share to Neurodegenerative Diseases

Share to Porphyria, Acute Intermittent

Source

Open in PubMed Open full text

Identifiers

PMID: 41731635
DOI: 10.1186/s13256-026-05879-2
PMCID: PMC12952037

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report.PMID 41731635Read ↗

Acute intermittent porphyria-related leukoencephalopathy.Semantic proximity Read ↗

Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations.Semantic proximity Read ↗

Acute intermittent porphyria: studies of the severe homozygous dominant disease provides insights into the neurologic attacks in acute porphyrias.Semantic proximity Read ↗

Molecular basis of acute intermittent porphyria: mutations and polymorphisms in the human hydroxymethylbilane synthase gene.Semantic proximity Read ↗

Reversible splenial lesion syndrome (RESLES) due to acute intermittent porphyria with a novel mutation in the hydroxymethylbilane synthase gene.Semantic proximity Read ↗

Molecular Analysis of 55 Spanish Patients with Acute Intermittent Porphyria.Semantic proximity Read ↗

Acute intermittent porphyria: a single-base deletion and a nonsense mutation in the human hydroxymethylbilane synthase gene, predicting truncations of the enzyme polypeptide.Semantic proximity Read ↗

A novel heterozygous mutation in the HMBS gene in a patient with acute intermittent porphyria and posterior reversible encephalopathy syndrome.Semantic proximity Read ↗

Variable neurological phenotypes of homocystinuria caused by biallelic methylenetetrahydrofolate reductase variants.Semantic proximity Read ↗

Reversible splenial lesion syndrome (RESLES) due to acute intermittent porphyria with a novel mutation in the hydroxymethylbilane synthase geneSemantic proximity Read ↗

Identification and molecular analysis of 17 novel variants of hydroxymethylbilane synthase in Chinese patients with acute intermittent porphyria.Semantic proximity Read ↗

Novel Mutation of Hydroxymethylbilane Synthase in a Case of Acute Intermittent Porphyria Presenting with Posterior Reversible Encephalopathy Syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.