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

Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations.

American journal of medical genetics. Part A - 1 Oct 2021

Stutterd Chloe A, Kidd Alexa, Florkowski Chris, Janus Edward, Fanjul Miriam, Raizis Anthony, Wu Teddy Y, Archer John, Leventer Richard J, Amor David J, Lukic Vesna, Bahlo Melanie, Gow Paul, Lockhart Paul J, van der Knaap Marjo S, Delatycki Martin B

Abstract excerpt

Pathogenic heterozygous variants in HMBS encoding the enzyme hydroxymethylbilane synthase (HMBS), also known as porphobilinogen deaminase, cause acute intermittent porphyria (AIP). Biallelic variants in HMBS have been reported in a small number of children with severe progressive neurological disease and in three adult siblings with a more slowly, progressive neurological disease and distinct leukoencephalopathy....

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cognitive Dysfunction

Share to Homozygote

Share to Hydroxymethylbilane Synthase

Share to Leukoencephalopathies

Share to Magnetic Resonance Imaging

Share to Porphyria, Acute Intermittent

Source

Identifiers

PMID: 34089223
DOI: 10.1002/ajmg.a.62377

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

Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations.PMID 34089223Read ↗

Acute intermittent porphyria-related leukoencephalopathy.Semantic proximity Read ↗

Neurodevelopmental disorder in a patient with HMBS and SCN3A variants-A possibly blended phenotype further delineating autosomal recessive HMBS related disease.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 ↗

Bi-allelic hydroxymethylbilane synthase inactivation defines a homogenous clinico-molecular subtype of hepatocellular carcinoma.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 ↗

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

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

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

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

Whole Exome Sequencing Identified a Novel Heterozygous Mutation in HMBS Gene in a Chinese Patient With Acute Intermittent Porphyria With Rare Type of Mild AnemiaSemantic proximity Read ↗

Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroidsSemantic proximity Read ↗

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