ABMGG Biochemical Genetics Blueprint and Content Codes (Effective August 2019)

Exam Blueprint

ID Approximate Exam Content Topic Number Percentage I Amino acids 13% II Organic acids 13% III Cofactors 6% IV Carbohydrates 11% V Lipids 11% VI Lysosomes 11% VII Mitochondria 8% VIII 3% IX Purines and pyrimidines 3% X Transport 3% XI Creatine 1% XII Neurotransmitters 3% XIII Metals 3% XIV Laboratory 8% XV Other disease category 3%

Clinical Biochemical Genetics Content Codes

I. Amino acids A. PKU and hyperphenylalaninemia B. Tyrosinemias C. Glycine encephalopathy D. MSUD and disorders of branched-chain amino acids E. Homocystinuria/disorders of sulfur amino acids F. Urea cycle defects G. Other (e.g., Serine biosynthesis disorders, Ornithine aminotransferase deficiency [gyrate atrophy]) II. Organic acids A. Methylmalonic acidemia (excluding cobalamin defects) and propionic acidemia B. 3-MCC deficiency and other C5OH-related disorders C. IVA and other C5-related disorders D. Glutaric acidemia type I E. Disorders of ketone body metabolism (HMG-CoA lyase, SCOT) F. Other (e.g., Canavan disease, 2-Hydroxyglutaric aciduria [D-, L-, D/L], Combined malonic and methylmalonic acidemia [CMAMMA], Ethylmalonic encephalopathy, Dietary/drug artifacts, Neuroblastoma) III. Cofactors A. Cobalamin B. Biotin C. Molybdenum D. Folate E. Pyridoxine F. Biopterin G. Other (eg, Niacin, Riboflavin) IV. Carbohydrates A. Glycogenoses (except GSD II [see LSD]) B. Disorders of glycolysis C. Disorders of gluconeogenesis (including fructose-1,6-bisphosphatase deficiency) D. Disorders of galactose metabolism E. Disorders of fructose metabolism F. Congenital disorders of glycosylation G. Other (e.g., Lafora disease, Adult polyglucosan body disease, Pentose phosphate pathway disorders) V. Lipids

A. Fatty acid oxidation disorders 1) Short-chain 2) Medium-chain 3) Long-chain 4) Multiple acyl-CoA dehydrogenase deficiency (GA2) B. Hyperlipidemias 1) Tangier disease 2) Other C. Disorders of metabolism 1) Smith-Lemli-Opitz syndrome 2) Niemann-Pick, type C 3) Other (e.g., Mevalonate kinase deficiency, Lathosterolosis, , X- linked chondrodysplasia punctata, CHILD syndrome) VI. Lysosomes A. Mucopolysaccharidoses 1) Type I 2) Type II 3) Type III 4) Type IV 5) Type VI 6) Type VII B. Sphingolipidoses 1) Gaucher disease 2) Fabry disease 3) GM2 gangliosidoses (including Tay-Sachs disease and variants, and Sandhoff disease) 4) Krabbe disease 5) Niemann-Pick, types A and B 6) GM1 gangliosidosis 7) Other C. Multiple enzyme deficiencies 1) Mucolipidoses (ML-II and ML-III) 2) Multiple sulfatase deficiency 3) Other (eg, Carbonic anhydrase 5A deficiency) D. Other (e.g., Lysosomal acid lipase deficiency) VII. Mitochondria A. Mitochondrial myopathies: Laboratory findings B. Mitochondrial myopathies: Leigh syndrome C. Mitochondrial myopathies: Adult presentations D. Disorders of electron transport chain function and assembly E. Mitochondrial DNA mutation disorders F. Disorders of mtDNA maintenance G. Mitochondrial DNA depletion syndromes H. Other (e.g., Disorders of CoQ synthesis, pyruvate oxidation defects, etc) VIII. Peroxisomes A. Biogenesis disorders (e.g., , infantile ) B. Single enzyme disorders (e.g., X-linked , RCDP types 2 or 3) C. Other IX. Purines and pyrimidines A. Purine disorders 1) Lesch-Nyhan disease 2) Adenosine deaminase deficiency 3) Other B. Pyrimidine disorders 1) UMP synthase deficiency 2) Other (e.g., Miller syndrome, Dihydropyrimidine dehydrogenase deficiency) X. Transport A. Dibasic aminoaciduria (includes cystinuria and lysinuric protein intolerance) B. Other amino acid transport disorders (eg, Hartnup disease, HHH syndrome, cystinosis) C. Glucose D. Carnitine E. Other (e.g., Mitochondrial tricarboxylate transporter [D/L-2-hydroxyglutaric aciduria], Sialiuria) XI. Creatine XII. Neurotransmitters A. Succinic semialdehyde dehydrogenase (SSADH) deficiency B. Disorders of dopamine synthesis C. Other (e.g., GABA transaminase, AADC deficiency, Dopamine beta-hydroxylase deficiency, GTP cyclohydrolase deficiency) XIII. Metals A. Copper 1) Wilson disease 2) Menkes disease 3) Other B. Iron C. Zinc D. Other (e.g., Selenium, Calcium/manganese) XIV. Laboratory A. QA/QC B. Artifact C. Techniques D. Regulations XV. Other disease category