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

Prenatal Brain Abnormalities in Sodium-Dependent Multivitamin Transporter Deficiency.

American journal of medical genetics. Part A - 1 Sept 2025

Ogawa Eri, Kosaki Kenjiro, Takenouchi Toshiki

Abstract excerpt

In treatable neurometabolic disorders, early diagnosis and prompt initiation of treatment are key to improved survival and outcomes. Biallelic variants in SLC5A6 cause sodium-dependent multivitamin transporter deficiency (OMIM # 618973), which is treatable with high-dose pantothenic acid, biotin, and alpha lipoic acid. So far, the onset has been postnatal in all reported patients. A review of the prenatal imaging...

Read the complete abstract on PubMed

Topics

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

Share to Biotin
Share to Brain
Share to Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Pregnancy

Share to Prenatal Diagnosis

Source

Identifiers

PMID: 40272030
DOI: 10.1002/ajmg.a.64102

Genes

SLC5A6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Prenatal Brain Abnormalities in Sodium-Dependent Multivitamin Transporter Deficiency.PMID 40272030Read ↗

Expanded Clinical Phenotype and the Role of Untargeted Metabolomics Analysis in Confirming the Diagnosis of Sodium-Dependent Multivitamin Transporter Deficiency.Semantic proximity Read ↗

Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6Semantic proximity Read ↗

A novel SLC5A6 homozygous variant in a family with multivitamin-dependent neurometabolic disorder: Phenotype expansion and long-term follow-up.Semantic proximity Read ↗

Mutations in SLC5A6 associated with brain, immune, bone, and intestinal dysfunction in a young child.Semantic proximity Read ↗

Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders.Semantic proximity Read ↗

SLC19A3 Gene Defects Sorting the Phenotype and Acronyms: Review.Semantic proximity Read ↗

Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy.Semantic proximity Read ↗

A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype–Phenotype AnalysisSemantic proximity Read ↗

3-Methylglutaconic aciduria type VIII in an Indian neonate.Semantic proximity Read ↗

Child Neurology: Infantile Biotin Thiamine Responsive Basal Ganglia Disease: Case Report and Brief Review.Semantic proximity Read ↗

Dual molecular genetic diagnosis with combined malonic and methylmalonic aciduria (CMAMMA): implications of coexisting genetic disorders on clinical presentation.Semantic proximity Read ↗

Report of rapid diagnosis and precise management of MMADHC-related intracellular cobalamin defect.Semantic proximity Read ↗

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