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Biotinidase Deficiency: Primary Care Guide to a Positive Newborn Screen

Guidance for primary care clinicians receiving a positive newborn screen result Biotinidase is an autosomal recessive inherited disorder in which the body is unable to reuse and recycle biotin, a B complex vitamin found in foods such as liver, egg yolks, nuts, and milk. Biotinidase is responsible for the extraction of biotin from ingested dietary …

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2M3HBA Deficiency: Primary Care Guide to a Positive Newborn Screen

Introduction: 2M3HBA deficiency is an X-linked disorder caused by pathogenic variants in the HSD17B10 gene (previously known as HADH2), which encodes the enzyme 17β-hydroxysteroid dehydrogenase type 10. This enzyme has a significant role in 2 major pathways: (1) the catabolism of the branched-chain amino acid isoleucine, resulting in elevated levels of acylcarnitine species when deficient, and (2) a …

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Severe Combined Immunodeficiency (SCID): Primary Care Guide to a Positive Newborn Screen

Guidance for primary care clinicians receiving a positive newborn screen result Other Names Disorder Category Inborn error of immunity (IEI), immunodeficiency disorder Newborn Screening for SCID Abnormal Finding Absent or reduced T-cell receptor excision circles (TRECs), which are produced during normal T-cell maturation Tested By Description Severe combined immunodeficiency (SCID) includes a group of rare …

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Comparative Analysis of Psychological and Functional Patterns in Non-Binary and Transgender Youth with Autonomic Dysfunction

Abstract Introduction: Postural orthostatic tachycardia syndrome (POTS), a specific form of orthostatic intolerance (OI), is a prevalent autonomic dysfunction in adolescents associated with significant physical and psychosocial challenges. Limited research has explored the impact of these conditions on gender-diverse youth. This study examines the psychological and functional factors affecting non-binary and transgender adolescents with autonomic …

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