Genetic Medicine and Metabolism

The Medical Genetics and Metabolism department offers comprehensive services to children with birth defects. These services include diagnosis, genetic testing, genetic counseling regarding etiology, recurrence risks and prognosis and treatment. Our team includes a recurrence risks and prognosis and treatment. Our team includes a Metabolic Dietitian, and a Social Worker.

The center is certified as a CCS Metabolic Treatment Center for the CA Newborn Screening Program and directs the Prenatal Diagnostic Center. Our physician services are available 24 hours a day, 7 days a week. Genetic Medicine and Metabolism is also an important part of Valley Children’s Prenatal Diagnostic Center.


Services Offered & Conditions Treated

Inborn Errors of Metabolism

  • California Children’s Services (CCS) Metabolic Treatment Center:
    • Phenylketonuria
    • Galactosemia
    • Fatty acid oxidation defects
    • Lysosomal storage disorders
    • Organic acidemias
    • Mitochondrial disease
  • CCS Metabolic Treatment Team:
    • Physician
    • Genetic Counselor
    • Nutritionist
    • Nurse Coordinator
    • Social Worker
  • Newborn Screening (NBS) Area Service Center

Birth Defects and Mental Retardation including

  • Congenital malformations
  • Dysmorphic Syndrome
  • Single gene disorders
  • Chromosomal abnormalities
  • Neurologic disorders
  • Craniofacial anomalies

Diagnostic Services

  • Metabolic tests
  • Thorough physical exam (examining feet, hands, face, etc.) to look for anomalies
  • Family history analysis


Multidisciplinary Services

The Prenatal Diagnostic Center

  • Amniocentesis
  • Counseling
  • Detailed Fetal Ultrasound
  • Fetal Echocardiography
  • AFP Screening Follow-up
  • State Prenatal Diagnosis Center


  • Cycstic Fibrosis


  • Sickle Cell Anemia
  • Oncology


  • Diagnosing the cause of :
    • Seizures
    • Mental retardation
    • Progressive neurologic diseases
  • Neonatal Intensive Care Unit (NICU):
    • Consults for babies with possible metabolic disorders and birth defects
  • Pediatric Intensive Care Unit (PICU):
    • Consults for patients in the PICU for possible metabolic diseases


  • Congenital Heart Disease and Cardiomyopothy patients that could have a chromosomal cause

Plastic Surgery

  • Craniofacial anomalies as part of the Hospital’s Craniofacial Anomalies Team


  • Patients with Failure to Thrive
  • Patients with metabolic disorders due to liver problems

Charlie Mitchell Children's Center

  • Patients with complex chronic conditions


  • Endocrinology patients with metabolic diseases


  • Brittle Bone Disease
  • Short stature
  • Loose joints


  • Patients with retinal change that could be mitochondrial energy metabolism
  • Evidence of an energy metabolism
  • Anomalies of the eyes such as a missing eye

Ear, Nose and Throat (Otolaryngology)