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Key Clinical Message Anderson‐Fabry disease, a rare X‐linked lysosomal disorder, and congenital dyserythropoietic anemia (CDA) Type II, an autosomal recessive condition, both have distinct inheritance patterns. Their co‐occurrence is extremely rare, never been reported before. Therefore, screening is crucial for early management, and families should seek genetic counseling for children showing unusual presentations. Abstract Anderson‐Fabry disease (AFD) is a rare condition, characterized by a lysosomal storage disorder affecting lipid storage. It manifests in two forms: classic (early‐onset) and nonclassic (late‐onset). Conversely, congenital dyserythropoietic anemia (CDA) is a rare blood disorder caused by ineffective erythropoiesis, which results in the production of abnormal erythroblasts during the maturation of red blood cells, with CDA type II being the most frequent type. Both disorders have well‐understood pathophysiologies, yet they are genetically distinct. AFD is inherited in an X‐linked manner, whereas CDA type II follows an autosomal recessive pattern of inheritance. Although both AFD and CDA type II have been reported separately in the literature. The co‐existence for both AFD and CDA type II has not been reported. We describe a 10‐year‐old boy, with both which is believed to be the first documented case.

Abstract Boron isotope ratios (δ11B) are used across the Earth Sciences and are increasing analyzed by Multi‐Collector Inductively Coupled Plasma Mass Spectrometry (MC‐ICPMS). Accurate δ11B MC‐ICPMS analysis requires boron purification from the sample matrix using ion‐exchange column chromatography. However, the traditional gravity‐drip column method is time‐consuming and prone to airborne contamination due to its long duration and open resin surface. To address these issues, we designed a novel, simple, and reliable column chromatography technique called “peri‐columns.” This method uses a peristaltic pump to generate vacuum on a commonly used column set up. This method uses sealed collection beakers and does not require solutions to pass through pump tubing, minimizing contamination. The duration is reduced by eight‐fold, processing 12 samples in just 1.5 hr. It also yields low and consistent total procedural blanks, averaging 11 pg. The efficiency and efficacy of this method were tested by repeated boron purification from calcium carbonate and high‐sodium matrices with international and in‐house reference materials. The results matched those obtained using the gravity column method and fell within our laboratory long‐term and international certified values. The mean δ11B and 2SD (standard deviation) of repeatedly processed NIST 8301f were 14.57 ± 0.26‰ (n = 31), NIST 8301c was 24.19 ± 0.33‰ (n = 10), STAiG‐F1 was 16.20 ± 0.26‰ (n = 13), and seawater was 39.52 ± 0.32‰ (n = 10). All the components of our techniques are commercially available, and it is easily adaptable to other laboratories and isotope systems.

Abstract 3‐Hydroxy‐3‐methylglutaryl‐coenzyme A lyase deficiency (HMGCLD) is a rare autosomal recessively inherited metabolic disorder. Patients suffer from avoidable neurologically devastating metabolic decompensations and thus would benefit from newborn screening (NBS). The diagnosis is currently made by measuring dry blood spot acylcarnitines (C5OH and C6DC) followed by urinary organic acid profiling for the differential diagnosis from several other disorders. Using untargeted metabolomics (reversed‐phase UHPLC coupled to an Orbitrap Elite hybrid mass spectrometer) of plasma samples from 5 HMGCLD patients and 19 age‐matched controls, we found 3‐methylglutaconic acid and 3‐hydroxy‐3‐methylglutaric acid, together with 3‐hydroxyisovalerylcarnitine as the most discriminating metabolites between the groups. In order to evaluate the NBS potential of these metabolites we quantified the most discriminating metabolites from untargeted metabolomics in 23 blood spots from 4 HMGCLD patients and 55 controls by UHPLC tandem mass spectrometry. The results provide a tool for expanded NBS of HMGCLD using tandem mass spectrometry. Selected reaction monitoring transition 262/85 could be used in a first‐tier NBS analysis to screen for elevated 3‐hydroxyisovalerylcarnitine. In a positive case, a second‐tier analysis of 3‐hydroxy‐3‐methylglutaric acid and 3‐methylglutaconic acid in a dry blood spot using UHPLC tandem mass spectrometry instruments confirms the diagnosis. In conclusion, we describe the identification of new diagnostic biomarkers for HMGCLD and their application in NBS in dry blood spots. By using second‐tier testing, all patients with HMGCLD were unequivocally and correctly diagnosed.

Abstract Near‐haploid acute lymphoblastic leukemia is rare subgroup of the disease, which is very important due to very poor prognosis and resistance to treatment including novel monoclonal antibodies and CAR‐T therapy.