RNSG 1412 (Ob/Pedi) - Exam 2, PPT & Learning Guide: PEDI Endocrine|Pediatric Endocrine and Metabolic Disorders: Phenylketonuria, Galactosemia, Maple Syrup Urine Disease, Tay-Sachs, Growth Hormone Deficiency, Precocious Puberty, Type 1 Diabetes Mellitus, D

RNSG 1412 (Ob/Pedi) - Exam 2, PPT & Learning Guide: PEDI Endocrine|Pediatric Endocrine and Metabolic Disorders: Phenylketonuria, Galactosemia, Maple Syrup Urine Disease, Tay-Sachs, Growth Hormone Deficiency, Precocious Puberty, Type 1 Diabetes Mellitus, DKA, Insulin Therapy, Hypoglycemia, Hyperglycemia, Newborn Screening, Genetic Counseling, Dietary Management, GnRH Agonists, SQ Injections, Insulin Pump, Ketonuria, HbA1c, Blood Glucose Monitoring, Pediatric Growth Patterns, Pubertal Onset, Pituitary Function, Amino Acid Metabolism, Enzyme Deficiencies, Laboratory Diagnostics, Nutritional Interventions, Psychosocial Support, Family Education, Developmental Milestones, Lifelong Management, Multidisciplinary Care Exam Questions Verified and Provided with Complete A+ Graded Rationales Latest Updated 2026 Collecting data during an Endocrine Assessment •Routine NB screening •Percentiles on weight and height •Distinguishing facial features, abdominal fat •Onset of puberty •Blood glucose levels •Detection of chromosomal disorders Newborn Screening •Required by state law in all 50 states •Should not be done until infant has fed •Should be done within 24-48 hours after birth & repeated 1-2 weeks of birth •Tests for more than 50 different conditions (actually more like 200) inborn errors of metabolism Phenylalanine Hydroxylase Deficiency •Formally called Phenylketonuria (PKU) •Genetic metabolic disorder •Absence of enzyme phenylalanine hydroxylase to breakdown phenylalanine to the amino acid Tyrosine •As a result, excessive phenylalanine builds up in the blood stream causing permanent damage to brain •Phenylalanine levels 600umol/L = treatment effects neuro development, can't metab. amino acids Phenylalanine Hydroxylase Deficiency- clinical maifestations & complications Clinical Manifestations •Vomiting** (early signs, happens abt 3 mos old) •Musty or Mousey urine odor •Irritability, hyperactivity •Hypertonia •Eczema •Lighter skin and hair color (older children) Complications (if left untx) •Seizure disorder •Developmental Delay •Untreatable intellectual impairment long term CNS damage Phenylalanine Hydroxylase Deficiency- tx, goal of tx, nursing care Treatment •Special low-phenylalanine formula •Diet low in phenylalanine (no protein & grains enriched) •Phenylalanine-free protein supplement •Cofactor tetrahydrobiopterin Goal of treatment •Maintain serum phenylalanine level between 120-360 umol/L Nursing Care •Family support •Diet education can still be breast fed, but levels have to be closely monitored Inborn Errors of Metabolism (IEM) Know this card for exam A group of congenital conditions that cause either accumulation of toxins or disorders of energy metabolism in the neonate. These conditions are characterized by an infant's failure to thrive and by vague signs such as poor feeding. •Galactosemia – cannot digest milk or sugar d/t deficiency of enzyme to convert galactose to glucose. Genetic, the enzymes will build up in the brain, liver, and kidneys causing damage. •Maple syrup urine – amino acids cannot be broken down leading to ketoacidosis appearing 48-72 hours after birth (think DKA) •Tay-Sachs disease – abnormal buildup of gangliosides (fatty substances) in neurons. genetic, effects more Jewish decent. protein in nerve tissue. Infant develops normally until abt 6mos, then decline quickly. No cure or tx, so pallitive care is only option. 100% fatal •Page 1257 Table 51.1 (info is on next 3 cards in this set)