ABMGG Medical Biochemical Genetics study plan

Map the core biochemical pathways (amino acid, organic acid, urea cycle, fatty acid oxidation, carbohydrate, lysosomal/peroxisomal) and annotate the enzyme and cofactor at each step

Explain for each pathway how a single enzyme defect produces the accumulating and depleting metabolites seen on testing

Derive the expected biochemical signature (which analytes rise or fall) for at least 15 representative disorders without looking at notes

Build a one-page cofactor and vitamin-responsive defect reference (biotin, thiamine, cobalamin, riboflavin, carnitine)

Classify inborn errors of metabolism by presentation category (intoxication, energy deficiency, storage) and match prototype disorders to each

Construct a differential for neonatal encephalopathy, hypoglycemia, hyperammonemia, and metabolic acidosis from biochemical findings alone

Contrast acute versus chronic presentations of the same disorder class

Predict which disorders are amenable to emergency detoxification versus substrate restriction versus cofactor supplementation

Integrate pathway biochemistry with clinical phenotype by writing a case vignette for 10 disorders linking defect, analyte pattern, and presentation

Distinguish disorders that share a biochemical marker (e.g., elevated lactate, elevated ammonia, elevated C5-OH acylcarnitine) by secondary findings

Explain secondary biochemical disturbances (e.g., carnitine depletion, hyperammonemia secondary to organic acidemia) mechanistically

Specify specimen collection, handling, and stability requirements for plasma amino acids, acylcarnitines, organic acids, and enzyme assays

Interpret tandem mass spectrometry newborn screening results including cutoff logic, false positives, and second-tier testing

Explain confirmatory testing pathways after an abnormal newborn screen for at least 8 disorder categories

Describe the limitations and interference sources of common metabolic assays

Design acute crisis management for hyperammonemia, metabolic acidosis, and hypoglycemia including dosing rationale for nitrogen scavengers and carnitine

Construct long-term management plans for phenylketonuria, maple syrup urine disease, a fatty acid oxidation defect, and a lysosomal storage disorder

Compare dietary, pharmacologic, and transplant-based treatment strategies and state when each is indicated

Identify monitoring parameters and complications to surveil during chronic therapy

Apply inheritance patterns (autosomal recessive, X-linked, mitochondrial, imprinting) to recurrence risk calculations for metabolic disorders

Interpret variant classification and its impact on carrier testing and prenatal diagnosis

Explain genotype-phenotype variability, pseudodeficiency alleles, and mild versus severe variant effects in metabolic disease

Describe the role and limitations of expanded carrier screening and prenatal testing options

Deliver a structured counseling script for a new diagnosis covering prognosis, recurrence risk, and reproductive options

Analyze ethical tensions in newborn screening (residual findings, incidental detection, treatability criteria) and state a reasoned position

Apply professional guidelines on informed consent, confidentiality, and duty to recontact in metabolic genetics

Practice explaining a metabolic diagnosis to a family at an appropriate health-literacy level

Complete timed mixed-domain practice blocks and review every missed item to its underlying principle

Re-drill the weakest two domains identified by practice performance

Consolidate high-yield facts into a single condensed review sheet

Rehearse rapid recall of analyte patterns, emergency management steps, and recurrence risks