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 Children's Center at Sutter Medical Center, Sacramento. Inpatient and outpatient services are available under the medical direction of board-certified geneticists.

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 nurse specialist, 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) 733-1025. 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 specific metabolic disorders, please visit our health information section. The National Organization of Rare Disorders also offers a comprehensive database of metabolic-related conditions.

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