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Abbreviations PCD: Primary Carnitine Deficiency SCD: Secondary Carnitine Deficiency CACT: Carnitine-Acylcarnitine Translocase CCD: Carnitine Transport and Cycle Disorders MS/MS: Tandem Mass Spectrometry NGS: Next-Generation Sequencing ONT: Oxford Nanopore Technology BTD: Biotinidase Deficiency EDTA: Ethylenediaminetetraacetic Acid PCR: Polymerase Chain Reaction VCF: Variant Call Format ACMG: American College of Medical Genetics VUS: Variants Of Unknown Significance LP: Likely Pathogenic PDB: Protein Data Bank IGV: Integrative Genomics Viewer CES: Clinical Exome Sequencing WES: Whole Exome Sequencing MAF: Minor Allele Frequency IGV: Integrative Genomics Viewer WGS: Whole Genome Sequence References Vanitha Sri T, Dhanusha K, Amirtha Lakshmi B, et al

The uptake of PA by cells often requires the mediation of fatty acid transport protein CD36 [54], and it can also be encapsulated within extracellular vesicles or particles (EVPs) to enter and exit cells via endocytosis and exocytosis [55]

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2026 - evaluation framing) New and diffuse pigmentation with systemic symptoms like fatigue, weight changes, or skin darkening elsewhere on the body - This pattern raises the possibility of an endocrine condition such as Addison's disease