8 citations
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July 2018 in “European Journal of Dermatology” A medication may help with hair growth in psoriasis, and a skin condition might be linked to a specific bacteria.
12 citations
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May 2005 in “Journal of the American Geriatrics Society” This case report describes successful treatment of valproate-induced hyperammonemia in a 79-year-old man using lactulose, marking the first such documented use for this condition.
February 2026 in “Pediatrics in Review” This case report describes an infant with congenital hyperinsulinism linked to a genetic mutation in the ABCC8 gene, illustrating challenges in managing persistent hypoglycemia despite medical interventions, leading to a near-total pancreatectomy.
February 2026 in “Endokrynologia Polska” This report presents two cases of Berardinelli–Seip syndrome, emphasizing the role of genetic analysis and comprehensive care in managing the variability and complications of this rare condition.
November 2025 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” This study documented a case of an 11-month-old with PKU who developed acrodermatitis enteropathica-like symptoms due to severe phenylalanine deficiency, requiring dietary adjustment to restore phenylalanine levels.
This study identified rare nucleotide substitutions in the SLC39A4 gene in children with acrodermatitis enteropathica, suggesting a genetic component to the disease's etiology.
16 citations
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May 2009 in “Journal of child neurology” In this study, valproic acid treatment did not significantly affect serum biotinidase enzyme activity in children, but was associated with hair loss in some patients, which resolved with biotin supplementation.
February 2019 in “Neoreviews” This case report details the diagnosis and management of argininosuccinate lyase deficiency in an infant, emphasizing initial symptoms, treatment strategies, and subsequent liver transplant leading to recovery.
25 citations
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December 2005 in “Molecular Genetics and Metabolism” This study reports that riboflavin may increase enzymatic activity in a GCDH-deficient patient with specific mutations, but doesn't fully normalize urinary organic acid levels.
March 2025 in “Biomedical & Pharmacology Journal” This observational study found that while 96.6% of patients using valproic acid showed the expected clinical response, over half experienced adverse reactions like weight gain, hair loss, and hepatotoxicity, highlighting the need for personalized treatment approaches to minimize these side effects.
2 citations
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August 2024 in “Molecular Genetics & Genomic Medicine” In this case study, an 8-day-old neonate with holocarboxylase synthetase deficiency showed dramatic improvement in lactic acidosis and overall clinical condition following biotin mega-dose therapy, highlighting the importance of early genetic testing and timely treatment in such metabolic disorders.
2 citations
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April 2023 in “Curēus” This study presents a case of a 24-year-old man who developed mild transaminitis and rhabdomyolysis within 24 hours of starting valproic acid for seizures, with symptom resolution following drug cessation.
13 citations
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February 1951 in “Journal of animal science/Journal of animal science ... and ASAS reference compendium” This study found that daily supplementation with 10 to 20 mg of calcium pantothenate led to complete recovery and significant improvement in appetite and growth in young pigs with pantothenic acid deficiency.
January 2025 in “JCEM Case Reports” This report describes a 27-year-old patient with Ehler-Danlos syndrome who also presented with hypophosphatasia and mastocytosis, and suggests enzyme replacement therapy might alleviate symptoms in such overlapping genetic conditions.
April 2023 in “Neurology” This study examined treatments for emesis in young Alexander disease patients, finding that 95% responded positively to valproic acid, which was more effective than anti-reflux medications or cyproheptadine, though some adverse effects require monitoring.
November 2025 in “Journal of Saidu Medical College Swat” In this case report, a 2.5-year-old boy with biotinidase deficiency, initially misdiagnosed due to overlapping symptoms, showed dramatic improvement in several clinical areas after starting biotin supplementation, but persistent sensorineural hearing loss underscored the importance of early diagnosis for preventing irreversible complications.
November 2022 in “Frontiers in pediatrics” This case report found that a child with acrodermatitis enteropathica showed significant improvement in symptoms after continuous zinc supplementation and identified two SLC39A4 mutations through genetic sequencing.
11 citations
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January 2020 in “BMC pediatrics” This case report identified two new SLC39A4 mutations in twin patients with acrodermatitis enteropathica, suggesting that different mutations in this gene may lead to varying clinical manifestations of the disorder.
This study in a nine-year-old boy from Lebanon identified a gene mutation (c.1066dup p.(Arg356Profs*16)) associated with a rare inborn error of immunity, characterized by craniosynostosis, jaundice, and several other symptoms, expanding the known genotypic and phenotypic spectrum of this condition.
7 citations
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March 2018 in “Psychiatry and Clinical Psychopharmacology” This article presents five cases of valproate-induced hyperammonemic encephalopathy in psychiatric patients treated at the authors' clinic and discusses existing literature on this side effect.
This study found that adding 1.5% lactic acid to mink diets during the hair growth period significantly improved production performance and maintained visceral health.
4 citations
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October 1993 in “PubMed” This study observed that while valproic acid treatment in children led to occasional mild clinical and laboratory side effects, no correlation with drug plasma levels was found.
6 citations
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April 2013 in “International Journal of Dermatology” This correspondence article discusses a case of androgenetic alopecia treated with valproic acid but does not present new clinical findings.
2 citations
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January 2024 in “Revista Paulista de Pediatria” In this case report, researchers described a 6-year-old girl with severe mandibuloacral dysplasia type A, noting unique physical deformities and a rare homozygous LMNA gene mutation not commonly associated with the condition.
294 citations
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February 1994 in “PubMed” This review highlights valproic acid's efficacy and tolerability as a first-line treatment for various seizure types in both adults and children, emphasizing its minimal neurological adverse effects compared to other antiepileptic drugs.
1 citations
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July 2020 in “Acta Neuropsychologica” This study observed that valproic acid treatment led to a significant reduction in aggressive and impulsive behaviors among patients with acquired brain injury, with varying effects based on cognitive impairment degree; the treatment was generally well-tolerated, though some patients experienced temporary side effects.
31 citations
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July 2012 in “Journal of Lipid Research” This study found that the acyl-CoA binding protein is essential for the production of very long chain free fatty acids in the stratum corneum and maintaining normal epidermal barrier function in mice.
January 2018 in “Journal of Diabetic Association Medical College.” This case study reports a two and a half-month-old with biotinidase deficiency who showed rapid seizure improvement with biotin treatment after presenting with convulsions and neurological symptoms.
1 citations
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May 2019 in “DOAJ (DOAJ: Directory of Open Access Journals)” This study presented two brothers with hereditary acrodermatitis enteropathica who had normal zinc serum levels and experienced skin and hair lesions, but no dental disorders.
5 citations
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January 2015 in “Molecular Genetics and Metabolism”