ArticleMetabolic brain disease2016
Huppke-Brendel syndrome in a seven months old boy with a novel 2-bp deletion in SLC33A1.
Article in Metabolic brain disease, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 25 citations in OpenAlex.
- Drug-resistant epilepsy in an autosomal recessive copper metabolism disorder from SLC33A1 mutation.Epilepsy & behavior reports · 2026Article
- The Role of Metal Ions in Mitochondria: From Energy Metabolism to Cell Destiny.Biological trace element research · 2026Review
- Interplay of SLC33A1-dependent and -independent Golgi sialic acid O-acetylation in CASD1 catalysis.Nature communications · 2026Article
- Pharmacological Inhibition of SLC33A1 Promotes Endoplasmic Reticulum Hyperoxidation and Induces Adaptive IRE1/XBP1s Signaling.bioRxiv : the preprint server for biology · 2026Article
- Diagnostic challenges and mimicking disorders of Wilson's Disease: A comprehensive review.Caspian journal of internal medicine · 2026Review
- Huppke-Brendel syndrome: Novel cases and a therapeutic trial with ketogenic diet and N-acetylcysteine.JIMD reports · 2024Article
- Unfavorable switching of skewed X chromosome inactivation leads to Menkes disease in a female infant.Scientific reports · 2024Article
- Mitochondrial copper in human genetic disorders.Trends in endocrinology and metabolism: TEM · 2023Review
- Case report: Huppke-Brendel syndrome in an adult, mistaken for and treated as Wilson disease for 25 years.Frontiers in neurology · 2022Article
- Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities.Clinical genetics · 2021Article
- Coenzyme a Biochemistry: From Neurodevelopment to Neurodegeneration.Brain sciences · 2021Review
- ATG9A regulates proteostasis through reticulophagy receptors FAM134B and SEC62 and folding chaperones CALR and HSPB1.iScience · 2021Article
- Acetyl-CoA flux from the cytosol to the ER regulates engagement and quality of the secretory pathway.Scientific reports · 2021Article
- Genome-wide association study identifies novel single nucleotide polymorphisms having age-specific effect on prostate-specific antigen levels.The Prostate · 2020Article
- The Role of Fe, Zn, and Cu in Pregnancy.Biomolecules · 2020Review
- Review
- Acetyl-CoA flux regulates the proteome and acetyl-proteome to maintain intracellular metabolic crosstalk.Nature communications · 2019Article
- Classification and differential diagnosis of Wilson's disease.Annals of translational medicine · 2019Review
- Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Nε-lysine acetylation in the endoplasmic reticulum - a novel cellular mechanism that regulates proteostasis and autophagy.Journal of cell science · 2018Review
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Huppke -Brendel syndrome is a new addition to the evolving spectrum of copper metabolism defects. It is an autosomal recessive disorder characterized by congenital cataract, impaired hearing, and developmental delay with low copper and ceruloplasmin. It is caused by defects in SLC33A1 that codes for acetyl CoA transporter protein. Reports on variation in this gene causing human disease is extremely scarce and the metabolic link between this gene and copper metabolism is yet to be identified. Here we report a seven months old infant with Huppke-Brendel Syndrome. In addition to the already reported features, he also had hypo pigmented hair and hypogonadism. His magnetic resonance imaging revealed hypo myelination and cerebellar hypoplasia. Clinical exome sequencing revealed a homozygous two base pair deletion, c.542_543delTG (p.Val181GlyfsTer6) in exon 1 of the SLC33A1. This report expands the phenotypic and genotypic spectrum of Huppke Brendel syndrome.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.