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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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Insomnia

Bleary-eyed in darknessstumbling to the bathroomtripping over dog’s pawsand articles of clothing strewn on the floor Sleep interruptedby bright lights overheadas I sit now wide awake on the toilet Feeling pain and pressure in my abdomenwincing as little feet kick ribs andmarveling at the few layersbetween me and him Grunting nowlimbs strewn across the couchI …

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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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Learn About Attention Deficit Hyperactivity Disorder (ADHD)

Answers to questions families often have about caring for their child with attention deficit hyperactivity disorder (ADHD) What is ADHD? ADHD stands for attention deficit hyperactivity disorder. About 10% of children and teenagers in the United States have been diagnosed with it.  It’s a condition that affects how people pay attention, control their energy, and …

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Newborn Transition Care Guideline

Updated in December 2024, this care process model guides the University of Utah Hospital’s postpartum care team on the most appropriate level of care for term and late preterm newborns directly after delivery. When medically appropriate, the preferred location for the newborn to transition is on the mother’s chest. Nonetheless, certain risk factors or concerning …

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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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