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    Medical Genetics/ Metabolic Disorders
    Sutter Children's Center, Sacramento

    Children with known or suspected metabolic diseases such as amino acid disorders, including phenylketonuria (PKU), and conditions affecting metabolism of carbohydrates, fatty acid oxidation, and organic acid disorders receive complete evaluation and treatment through Sutter Children's Center, Sacramento. Inpatient and outpatient services are available under the medical direction of a board-certified geneticist.

    Evaluation services include:

    1. Comprehensive health history and physical exam
    2. Laboratory studies (as indicated by the clinical presentation):
      • Quantitative urine metabolic screen
      • Quantitative amino acid analysis on urine, plasma, or CSF
      • Mucopoysaccarides - quantitation and electrophoretic characterization
      • Galactose -1- phosphate
      • GC/MS screening
      • DNA studies
    Children with metabolic disorders are evaluated and treated through our outpatient Metabolic Clinic. The clinic offers specialized services for infants through adolescents with known or suspected metabolic diseases. Our clinic is also the Department of Health Services, Genetic Disease Branch Newborn Screening Program's Metabolic Center for most of northern California. We evaluate neonates who screen positive for more than 40 different metabolic disorders.

    The clinic's multidisciplinary team includes a pediatric metabolic specialist, a pediatric registered nurse, a registered dietician, a genetic counselor, and a licensed clinical social worker experienced in working with children with metabolic disorders and their families. The clinic's metabolic specialist is Marthand Eswara, MD.

    Treatment is individually designed, taking into account the child's growth and development and the family's concerns and needs. The team also provides families with health education information, referrals to support groups, referrals to other specialists as needed and access to community resources.

    We are dedicated to addressing the chronic heath care needs of children with metabolic disorders and working with the families to improve their quality of life.

    For more information about our Metabolic clinic, call (916) 262-9132.

    For more information about specific metabolic disorders, please visit our health information section. The National Organization of Rare Disorders also offers a comprehensive database of metabolic-related conditions.

    The Genetics Clinic, headed by Dr. Marthand Eswara, board-certified medical geneticist, provides consultations, both inpatient and outpatient, for genetic disorders, comprehensive genetic counseling, and diagnostic services to pediatric patients and families with a history of, or at risk for, birth defects, developmental delays, and hereditary conditions. A comprehensive report including the genetics evaluation, recommendations, and community resources is sent to the referring physicians and patients.

    A board-certified genetic counselor obtains family and medical histories to assess the chance of disease occurrence or recurrence. We also provide education about inheritance, testing, management, prevention, resources, and research related to a genetic condition. The goal of counseling is to promote informed choices and adaptation to the risk or condition in each family.

    Children with genetic syndromes that have associated craniofacial anomalies are evaluated and treated through the Cleft Palate and Craniofacial Anomalies Panel. For more information about our genetics and craniofacial clinics, call (916) 262-9132.

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