SynthesisPediatric radiology2016
Antenatal and postnatal radiologic diagnosis of holocarboxylase synthetase deficiency: a systematic review.
Synthesis in Pediatric radiology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
12 citing papers in PubMed, 24 citations in OpenAlex.
- Holocarboxylase Synthetase Deficiency: A Second Case Report With Neonatal Cholestatic Liver Disease.JIMD reports · 2026Article
- Foetal disruptive brain injuries: Diagnosing the underlying pathogenetic mechanisms with cranial ultrasonography.Developmental medicine and child neurology · 2025Review
- Clinical and genetic analysis of four Chinese patients with holocarboxylase synthetase deficiency and metabolic acidosis.Orphanet journal of rare diseases · 2025Article
- Article
- Therapies for Mitochondrial Disease: Past, Present, and Future.Journal of inherited metabolic disease · 2025Review
- Metabolic pathways and genes involved in treatable and non-treatable metabolic epilepsies. A comprehensive review and metabolic pathway analysis.Metabolic brain disease · 2025Review
- Biotin Homeostasis and Human Disorders: Recent Findings and Perspectives.International journal of molecular sciences · 2024Review
- Clinical, biochemical, and genetic analysis of 28 Chinese patients with holocarboxylase synthetase deficiency.Orphanet journal of rare diseases · 2023Article
- Clinical, biochemical, and genetic analysis of a Chinese Han pedigree with holocarboxylase synthetase deficiency: a case report.BMC medical genetics · 2020Article
- Inborn errors of metabolism.Handbook of clinical neurology · 2019Review
- Antenatal manifestations of inborn errors of metabolism: prenatal imaging findings.Journal of inherited metabolic disease · 2017Review
- Antenatal manifestations of inborn errors of metabolism: biological diagnosis.Journal of inherited metabolic disease · 2016Review
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHolocarboxylase synthetase deficiency results in impaired activation of enzymes implicated in glucose, fatty acid and amino acid metabolism. Antenatal imaging and postnatal imaging are useful in making the diagnosis. Untreated holocarboxylase synthetase deficiency is fatal, while antenatal and postnatal biotin supplementation is associated with good clinical outcomes. Although biochemical assays are required for definitive diagnosis, certain radiologic features assist in the diagnosis of holocarboxylase synthetase deficiency.
objectiveTo review evidence regarding radiologic diagnostic features of holocarboxylase synthetase deficiency in the antenatal and postnatal period. MATERIALS AND
methodsA systematic review of all published cases of holocarboxylase synthetase deficiency identified by a search of Pubmed, Scopus and Web of Science.
resultsA total of 75 patients with holocarboxylase synthetase deficiency were identified from the systematic review, which screened 687 manuscripts. Most patients with imaging (19/22, 86%) had abnormal findings, the most common being subependymal cysts, ventriculomegaly and intraventricular hemorrhage.
conclusionAlthough the radiologic features of subependymal cysts, ventriculomegaly, intraventricular hemorrhage and intrauterine growth restriction may be found in the setting of other pathologies, these findings should prompt consideration of holocarboxylase synthetase deficiency in at-risk children.
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