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Genetic Medicine and Metabolism


The Medical Genetics/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 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

Pulmonology

  • Cycstic Fibrosis

Hematology

  • Sickle Cell Anemia
  • Oncology

Neurology

  • 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

Cardiology

  • 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

Gastroenterology

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

Charlie Mitchell

  • Patients with complex chronic conditions

Endocrinology

  • Endocrinology patients with metabolic diseases

Orthopaedics

  • Brittle Bone Disease
  • Short stature
  • Loose joints

Ophthalmology

  • 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)