ABMGG Clinical Biochemical Genetics case studies
ABMGG Clinical Biochemical Genetics · Put your knowledge to work in context.
Clinical Biochemical Genetics is one of the specialty certifications offered by the American Board of Medical Genetics and Genomics (ABMGG), a board 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 and laboratory geneticists who diagnose and manage inborn errors of metabolism, integrating biochemical testing with molecular and clinical data. Candidates typically reach the examination after completing an accredited training program and an approved application; ABMGG publishes content outlines and blueprints, exam requirements, testing process details, scoring information, and pass rates on its Initial Certification pages, and those documents - not third-party summaries - are the authoritative statement of what the exam covers. The ABMGG Clinical Biochemical Genetics case studies are 5 cases and about 3,720 words.
1A Neonate with Hyperammonemia and a Normal Plasma Citrulline: Choosing the Next Test Under Time Pressure
A 4-day-old term male, birth weight 3.2 kg, breastfed, presents with lethargy and poor feeding that began ~30 hours after birth. Exam: tachypnea, hypotonia, no dysmorphism.
759 words, about 4 min2A 14-Year-Old with Recurrent Rhabdomyolysis: Interpreting a Nondiagnostic Acylcarnitine Profile
A 14-year-old girl presents with her third episode of severe muscle pain and dark urine, each triggered by prolonged exercise or fasting during illness. During the current episode: CK 28,000 U/L, urine dipstick positive for blood but microscopy shows no red cells, serum creatinine 0.9 mg/dL, glucose 4.0 mmol/L, lactate 1.9 mmol/L, ammonia normal, liver enzymes mildly elevated.
809 words, about 4 min3Newborn Screening Follow-up: A Positive Screen in a Well-Appearing Infant Whose Confirmatory Testing Is Ambiguous
A 6-day-old female, born at 38 weeks, is brought to clinic because the state newborn screen (dried blood spot collected at 24 hours) flagged 'elevated C5-OH acylcarnitine' with a low free carnitine. The infant is feeding well, gaining weight, exam normal, no hypoglycemia, no acidosis.
688 words, about 3 min4A Young Adult with Episodic Ataxia and Vomiting: When to Escalate Testing for a Late-Onset Metabolic Disorder
A 24-year-old man presents with a 3-year history of recurrent episodes of vomiting, confusion, and unsteadiness, occurring every few months, sometimes after protein-rich meals or illness. Between episodes he is well.
663 words, about 3 min5A Discrepant Confirmatory Result: Laboratory Stewardship and Quality When a Referral Lab and Your Lab Disagree
Your biochemical genetics laboratory performs plasma amino acid analysis by ion-exchange chromatography with ninhydrin detection. A 3-year-old with developmental delay and seizures had a plasma amino acid profile at an outside reference laboratory reported as 'elevated serine, suggestive of a serine biosynthesis defect.' The outside lab used a different method (LC-MS/MS with derivatization).
801 words, about 4 min