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)