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This case report presents the first genetically confirmed case of acrodermatitis enteropathica in Korea, identifying compound heterozygous mutations in the SLC39A4 gene in an 8-month-old boy.

In this report, successful management of inherited acrodermatitis enteropathica, a zinc absorption disorder due to an SLC39A4 gene defect, was demonstrated in an infant through zinc supplementation.

This article discusses the importance of considering biotinidase deficiency in differential diagnosis for patients with certain neurological and dermatological symptoms, as timely treatment with biotin is crucial to prevent severe consequences.

This study found that caffeic acid treatment mitigated the negative effects of acrylamide toxicity in Wistar rats by normalizing tissue and serological indices.

This case report of a 16-month-old girl with acrodermatitis enteropathica, who showed atypical symptoms and normal zinc serum levels, highlights how genetic testing and zinc supplementation led to marked improvement in her condition, underscoring the importance of accurate diagnosis in metabolic disorders.

This study found that short-chain fatty acids produced by the skin microbe Propionibacterium acnes may drive inflammatory gene expression in sebocytes, potentially contributing to acne.

This study reports that the Swedish newborn screening program for phenylketonuria, galactosaemia, and biotinidase deficiency is effective, with high sensitivity and specificity, and lower false positive rates compared to other countries, while genetic variants impact detection and incidence patterns in Sweden.

This study reported discovering a novel missense variant in a case of autosomal recessive woolly hair in a 31-year-old Chinese woman, which significantly reduced secretion of the encoded protein, likely leading to disease by impairing its hydrolytic function.

This study reports a case of chylous peritonitis due to acute pancreatitis diagnosed intraoperatively in a 23-year-old man presenting with abdominal pain and milky-like fluid effusion.

The authors concluded that administering biotin may help prevent alopecia caused by reduced biotinidase activity during valproic acid therapy in rats.

This case report discusses a 15-year-old boy with pachyonychia congenita, identifying a keratin 17 gene mutation, and highlights the need for a national registry and more accessible genetic testing in India.

This study discusses zinc's vital role in skin cell growth and how its deficiency can lead to acrodermatitis enteropathica, marked by symptoms like alopecia and dermatitis. It notes that similar symptoms appear in people with certain metabolic conditions, referred to as acrodermatitis dysmetabolica.

This study in a Pakistani family identified a novel ST14 gene variant as the likely genetic cause of autosomal recessive ichthyosis with hypotrichosis syndrome.

This report details a case of acrodermatitis enteropathica in a 4-month-old infant, noting the disorder's rarity and familial transmission, and includes a literature review with no new clinical results.

This study suggests that biotin therapy may be beneficial for individuals with partial biotinidase deficiency, as some developed symptoms later, which resolved with treatment.

This study concludes that dietary L-serine supplementation shows promise as a long-term therapy for hereditary sensory and autonomic neuropathy type 1, reducing neurotoxic 1-deoxysphingolipid levels and improving symptoms in severe cases.

This case report details a 66-year-old male patient who developed eosinophilic pleuro-pericardial effusion likely due to valproic acid toxicity or overdosage, with full recovery observed after medication adjustments at a six-month follow-up.

This case series suggests that Propionibacterium acnes colonization may contribute to the development of hair casts and diffuse non-scarring alopecia, as patients' symptoms improved with antibiotics targeting the bacteria.

This study identified a novel mutation in the coproporphyrinogen oxidase gene, contributing to hereditary coproporphyria in a family, with decreased enzyme activity observed in the affected members.

This case report identifies a 32-year-old woman with undiagnosed PHPT-1a who exhibited complete pseudo-anodontia and persistent patchy alopecia areata, suggesting these may be new nonclassical features of a GNAS pathogenic variant.

This case study describes a 19-year-old female patient who gained 13 kg and experienced hair changes while on valproic acid, and partially lost weight after reducing the dosage, but hair changes persisted.

This study found that individuals taking valproate had a higher incidence of hair loss and reported an association between valproate levels, reduced biotinidase activity, and hair loss, compared to a control group.

This report details the case of an 11-year-old girl with APECED syndrome carrying a unique homozygous mutation in the AIRE gene, the first of its kind documented.

This review discusses the role of histone deacetylases in hearing loss, proposing potential pharmacological interventions, but reports no new clinical results.

This report describes a patient with biotinidase deficiency presenting bilateral optic atrophy, and confirms autosomal recessive inheritance through enzyme dosage analysis in the patient and family members.

This review discusses two genetic disorders affecting biotin metabolism, each resulting in distinctive skin and hair manifestations, and outlines the associated serious metabolic complications.

This study suggests that mutations in exon 10 of the POC1A gene may be linked to a distinct clinical condition characterized by extreme insulin resistance and short stature, differing from SOFT syndrome.

This study found that Malassezia globosa, a scalp-associated fungus linked to dandruff, grows with saturated but not unsaturated fatty acids, potentially causing unsaturated fatty acid accumulation on the scalp and triggering dandruff-like flaking in susceptible individuals.

In this retrospective study of eight Saudi children with hereditary vitamin D resistant rickets, researchers observed that adjunctive cinacalcet appeared safe and showed initial promise in improving serum PTH levels, though further investigation is needed to confirm its efficacy.

This case series highlights the real-world challenges and experiences of US healthcare providers using pegvaliase for phenylketonuria treatment, emphasizing patient education on adverse events and dietary changes, and tailored titration schedules, while reporting that most patients achieved treatment efficacy despite initial adverse events.