Three sets of learning objectives relate to genetics and metabolism in pediatric practice:

Knowledge of hereditary diseases and inheritance mechanisms:

• Be able to obtain family histories and diagram them as pedigrees.
  
  
• Know the major types of Mendelian inheritance-autosomal recessive, autosomal dominant, and X-linked recessive-and how to recognize them in pedigrees.
  
  
• Learn the characteristics of multifactorial inheritance that apply to most congenital anomalies like cleft palate, club foot, congenital heart disease. Understand the use of risk factors to ascertain probabilities for particular multifactorial diseases-e.g., cholesterol for heart disease.
  
  
• Know the characteristics of chromosomal disease, indications for karyotyping and FISH studies, and the interpretation of blood or bone marrow cytogenetic analysis.
  
  
• Understand the educational process of genetic counseling and the importance of non-directive counsel.
  
  
• Learn how to access reference material in genetics, including Mendelian Inheritance in Man (listing all Mendelian diseases and genes-www.ncbi.nlm.nih.gov/omim or see Dr. Lew Waber's web site at UTSW).

Knowledge of metabolic disease:

• Learn the indications for metabolic screening of newborns or potential carriers (heterozygotes).
  
  
• Know and be able to interpret key laboratory data for initial metabolic evaluations, e.g., glucose, electrolytes, pH, lactate, ammonia, urine organic acids, blood amino acids, blood carnitine and acylcarnitine profile.
  
  
• Learn the indications for suspecting inborn errors and the chief differential diagnosis for the following age groups--newborns, toddlers, older children.
  
  
• Learn examples of metabolic disease categories including phenylketonuria (aminoacidurias), methylmalonic acidemia (organic acidemias), galactosemia (carbohydrate disorders), ornithine transcarbamylase deficiency (urea cycle disorders), and glycogen storage disorders and mucopolysaccharide storage diseases (storage diseases).
  
  
• Learn major modes of therapy for metabolic disease, including dietary avoidance (PKU, galactosemia, urea cycle disorders), dietary modulation (glycogen storage disease), vitamin supplementation (methylmalonic acidemia, propionic acidemia/holocarboxylase deficiency), and alternative pathway therapy (urea cycle disorders).
  
  
• Learn how to respond to abnormal results on newborn screening tests.

Knowledge of congenital anomalies and dysmorphology:

• Be able to perform a dysmorphology examination with emphasis on recognition of minor anomalies (e.g., low-set ears, webbed neck, single palmar crease).
  
  
• Know the differences among syndromes, associations, sequences, and single anomalies.
  
  
• Know several common syndromes and their preventive management-e.g., Down syndrome, Turner syndrome, Klinefelter syndrome, Noonan syndrome, Williams syndrome, Marfan syndrome, and neurofibromatosis-1.