Medical Biochemical Genetics

The Medical Biochemical Genetics fellowship, under the direction of Jose Abdenur, M.D., encompasses the evaluation, prevention, treatment, and discovery of diseases due to genetic defects in human biochemical processes. He/She provides direct and consultative care for individuals of all ages who are diagnosed with biochemical disorders. The training program includes intensive interactions with children and adults with inborn errors of metabolism. This subspecialty differs from the primary specialty of Clinical Biochemical Genetics in that Medical Biochemical Genetics training does not provide the educational experience necessary for an individual to become a director of a biochemical genetics laboratory.

The fellowship is one year in duration and is available to licensed physicians who have completed a Medical Genetics Residency and have either passed their Boards or are recent graduates who will be taking their Medical Genetics boards within two years of graduation. Training includes intensive interactions with children and adults with inborn errors of metabolism.

The Medical Biochemical Genetics application form can be found here: Med-Biochem-ApplicationForm


  1. Each individual applying for certification must be a physician and hold a currently valid, full, and unrestricted license to practice medicine in the United States or Canada.


The following are the sites for Medical Biochemical Genetics clinics:

  • UCLA Center for Health Sciences 
  • Cedars-Sinai Medical Center 
  • Harbor-UCLA Medical Center 
  • Kaiser Sunset 
  • Children’s Hospital of Orange County
    • Lysosomal Storage Clinic 
    • Inborn Errors Clinic 

Overall Educational Goals: 

The Medical Biochemical Geneticist will be trained to care for patients with metabolic disorders and learn diagnosis and monitoring of patients with this family of conditions. This includes clinical presentation and diagnoses; laboratory diagnostic methods, interpretation and pitfalls; result reporting; and patient management and counseling.

  1. Attend the SIMD Graduate Level Biochemical Genetics course.
  2. Participate on a regular basis over the course of the training year in the Metabolic Clinics and have a substantial role in the clinical assessment of at least 150 patients. This includes new patient consults, follow-up visits, inpatient consults on acutely ill patients, and return visits of known patients.
  3. Write or dictate the relevant notes and assume responsibility for communication and coordination with the primary physician.
  4. Patient exposure will include those with amino acid, organic acid, urea cycle, sugar, transport, mucopolysaccharide, lipid and other disorders.
  5. Learn about different products and tests and the cost of each.
  6. Learn to care for the patients in an interdisciplinary milieu with nurses, dietitians, counselors and social workers and assess the impact of the disorder on the family and social structure.
  7. Become familiar with the current and historic literature in the field and will be responsible for communication of results to both metabolically trained and general physicians.


PATIENT CARE: compassionate, appropriate, effective in delivery of genetic services by gathering essential/accurate information using the following clinical skills:

  • Order routine and a specialized nature tests
  • Evaluate  diagnostic studies, including interpretation of laboratory and imaging data including: 
  1. plasma amino acids,
  2. urine organic acids,
  3. plasma acylcarnitines,
  4. plasma carnitine,
  5. plasma homocysteine,
  6. plasma lactate and pyruvate,
  7. urine oligosaccharides and mucopolysaccharides,
  8. transferrin,
  9. enzymatic assays,
  10. muscle biopsy and electron transport chain complex assays,
  11. MRI and MRS of the brain,
  12. genetic mutation detection.
  • Formulate an hypothesis and prove the diagnosis
  • Formulate and carry out treatment on all patients

Make informed decisions about diagnostic and therapeutic interventions based on patient and family information and preferences, up-to-date scientific evidence and clinical judgment by:

  • Demonstrate diagnostic ability and of patients with:
  1.  amino acid,
  2.  organic acid,
  3.  urea cycle,
  4.  sugar, transport, mucopolysaccharide, lipid and other disorders.
  • Learn to evaluate amino acids, organic acids, carnitine, purine, and pyrimidines and complex polysaccharides in body fluids.
  • Develop and carry out methods, results, output, systematic controls and data calculation
  • Prescribe and perform medical interventions essential for the care of patients with biochemical genetic disorders
  • Counsel and educate patient’s and their families
  • Use information technology to support patient care decisions and patient education
  • Work with health care professional, including those from other disciplines to provide patient-focused care

MEDICAL KNOWLEDGE (of clinical biochemical and genetic sciences and the application of this knowledge to patient care). Residents must:

  • Learn how the following tests are done:
  1. Screen for lysosomal storage disorder
  2. Very long chain fatty acid analysis
  3. Organic acid analysis
  4. Amino acid analysis
  5. Total homocysteine, MMA, orotic and lactate/pyruvate
  • Learn methods and interpretations for:
  1. Lysosomal storage disorder
  2. Very long chain fatty acid analysis
  3. Organic acid analysis
  4. Amino acid analysis
  5. Total homocysteine, MMA, orotic and lactate/pyruvate
  • Perform additional literature search or review of materials as needed for more complex or unusual cases
  • Be able to locate, appraise and assimilate evidence from scientific research

PRACTICE-BASED LEARNING AND IMPROVEMENT (investigation and evaluation of patient care practices, appraise and assimilate scientific evidence and improve patient care practices. Residents must:

  1. Obtain and use information about their own patients and the larger population
  2. Use information technology, including on-line resources
  3. Facilitate the education of others


INTERPERSONAL AND COMMUNICATION SKILLS (demonstrate effective information exchange and collaboration with patients, families and health professionals). Residents must:

  • Communicate effectively and demonstrate caring and respectful behaviors
  • Communicate effectively; create/sustain a professional and therapeutic relationship
  • Communicate effectively with other health professionals and the general public
  • Work effectively as a member or leader of a medical genetics health care team
  • Maintain comprehensive, timely and legible medical records, including patient dictation/summary letter


PROFESSIONALISM (commitment to carrying out professional responsibilities, adherence to ethical principles and sensitivity to patient population).  Residents are expected to:

  • Demonstrate respect, compassion and integrity
  • Demonstrate a commitment to ethical principles pertaining to patient privacy and autonomy, confidentiality of patient information and informed consents
  • Demonstrate sensitivity and responsiveness to patients’ culture, age, gender and disabilities


SYSTEM-BASED PRACTICE (demonstrates awareness of and responsiveness to larger context and system of health care and ability to utilize system resources). Residents must be able to:

  • Learn the economics of  the operation and all administrative and quality assurance aspects involved in the management of a metabolic laboratory.
  • Promote health and function and prevent disease and injury
  • Possess economic and business knowledge to function effectively