ABMGG Medical Biochemical Genetics case studies
ABMGG Medical Biochemical Genetics · Put your knowledge to work in context.
Medical Biochemical Genetics is a subspecialty certification offered by the American Board of Medical Genetics and Genomics (ABMGG), an organization whose stated mission is "to serve the public and medical profession by establishing professional certification standards and promoting lifelong learning as well as excellence in medical genetics and genomics." The credential is intended for physicians who have completed genetics training and wish to demonstrate subspecialty competence in inherited metabolic disease. This independent study resource is organized around six domains: biochemical genetics; inborn errors of metabolism; metabolic laboratory testing and newborn screening; clinical management and treatment of metabolic disorders; genetic and genomic principles; and counseling, ethics, and professionalism. The ABMGG Medical Biochemical Genetics case studies are 5 cases and about 2,778 words.
1A Neonate with Hyperammonemia and a Normal Plasma Amino Acid Profile
A 4-day-old term male, birth weight 3.2 kg, breastfed, presents with poor feeding and lethargy progressing to obtundation over 12 hours. Vitals: HR 160, RR 55, temp 36.8 C.
662 words, about 3 min2An Adolescent with Episodic Rhabdomyolysis and a Nondiagnostic Acylcarnitine Profile
A 15-year-old girl presents with two episodes of dark urine and muscle pain after prolonged exercise and a febrile illness. Creatine kinase is 28,000 U/L during the episode, falling to 300 U/L at baseline.
584 words, about 3 min3Newborn Screening Follow-up: An Elevated C5 with a Normal Repeat
A newborn screening card collected at 36 hours of life reports an elevated C5 acylcarnitine (C5 1.2 micromol/L; cutoff 0.8). The infant is now 12 days old, exclusively breastfed, thriving (weight up 250 g), with no lethargy, vomiting, or hypoglycemia.
495 words, about 2 min4A Woman with PKU Planning Pregnancy and a Phenylalanine of 900 micromol/L
A 27-year-old woman with classical phenylketonuria (PAH deficiency), diagnosed by newborn screening, presents for preconception counseling. She has been off diet since age 12 and eats a normal diet.
472 words, about 2 min5A Family Requests Predictive Testing for a Child with a Metabolic Condition
Parents of a 7-year-old boy with a confirmed autosomal recessive metabolic disorder (a treatable amino acidopathy) request predictive genetic testing for their 5-year-old daughter, who is asymptomatic. They say they want to 'know now' so they can start treatment early if needed, and they are anxious because a cousin was diagnosed late with severe consequences.
565 words, about 3 min