Metabolic & Mitochondrial Medicine

Metabolic Medicine Overview

The Metabolic & Mitochondrial Medicine Program at Rady Children’s Specialists of San Diego is dedicated to providing exceptional and specialized care for children with metabolic and mitochondrial diseases in San Diego, Imperial, and Riverside counties. With our unwavering commitment to this field, our program has earned a reputation for its extensive knowledge and expertise. Our physicians are not only highly skilled but also pioneers in identifying various rare diseases and enzyme defects associated with them, ensuring that our patients receive the most accurate diagnoses and targeted treatment plans.

In line with our dedication to comprehensive care, our physicians actively participate in the metabolic disease screening component of the Newborn Screening Program, a statewide initiative led by the California Department of Public Health. As one of the program’s designated service centers, we contribute to the early detection and intervention of genetic diseases. By identifying these conditions in their infancy, we can promptly initiate appropriate treatments and interventions, effectively preventing potential long-term health complications.

At our program, research plays a vital role in driving innovation and improving patient outcomes. Our team is actively engaged in a range of clinical trials that focus on evaluating the efficacy of enzyme replacement therapy for various conditions. These include Gaucher disease, Hurler disease, Fabry disease, and Pompe disease. By participating in these trials, we aim to contribute to the advancement of medical knowledge and treatment options for metabolic disorders. Our ultimate goal is to improve the quality of life for our patients and their families by offering the most cutting-edge and effective therapies available.

By expanding our understanding of these rare diseases and their underlying mechanisms, we can continually refine our approach to patient care. Our research efforts not only enhance our treatment strategies but also provide hope for families facing these challenges. Through our involvement in these pivotal clinical trials, we strive to uncover new breakthroughs and revolutionize the management of metabolic and mitochondrial diseases.

The Metabolic & Mitochondrial Medicine Program at Rady Children’s Specialists of San Diego is at the forefront of providing specialized and comprehensive care for children with metabolic and mitochondrial diseases. With our team of pioneering physicians, active involvement in newborn screening programs, and dedication to cutting-edge research, we are committed to improving patient outcomes and advancing the field of metabolic medicine.

Symptoms of Metabolic Syndrome

Metabolic medicine is a specialized field that focuses on the diagnosis and treatment of metabolic disorders. These disorders can affect various aspects of our health and well-being, and recognizing the signs and symptoms is essential for early intervention and management. Identifying the presence of metabolic disorders requires paying attention to a variety of symptoms and indicators that may be indicative of an underlying issue.

Persistent fatigue – One common manifestation of metabolic disorders is persistent fatigue. While occasional tiredness is a normal part of life, persistent fatigue that doesn’t improve with rest can be a sign of an underlying metabolic issue. It’s important to note that fatigue alone is not enough to make a diagnosis, but when experienced alongside other symptoms, it may warrant further investigation.
Increased thirst and frequent urination – Increased thirst and frequent urination are also classic signs of a potential metabolic disorder. Our body’s ability to regulate fluid balance can be compromised when there is an underlying metabolic issue, leading to excessive thirst and more frequent trips to the bathroom. This symptom is often accompanied by other warning signs, and it’s crucial not to ignore this potential red flag.
Unexplained weight loss or weight gain – Changes in weight can also be indicative of an underlying metabolic issue. Unexplained weight loss or weight gain, especially when it occurs rapidly or without any apparent cause, should be taken seriously. This fluctuation in weight can be associated with various metabolic disorders and should prompt a medical evaluation.
Persistent hunger or increased appetite – Persistent hunger or increased appetite is another symptom that can point towards metabolic disorders. While hunger is a natural bodily response to the need for nourishment, persistent and uncontrollable hunger may indicate a disruption in the body’s metabolic processes. This symptom can have a significant impact on an individual’s quality of life and overall well-being.
Frequent infections or slow wound healing – Frequent infections or slow wound healing can also be warning signs of metabolic disorders. Our immune system plays a crucial role in fighting off infections and promoting healing. However, when the metabolic function is compromised, the body’s ability to ward off infections and repair wounds may be impaired. This recurring pattern of infections and delayed healing should be investigated further to identify and address the underlying cause.
Blurred vision – Vision changes, such as blurred vision, can occur when metabolic disorders affect the blood vessels in the eyes. This symptom should never be ignored, as it can be an indicator of an underlying issue that requires prompt medical attention.
Tingling or numbness in hands or feet – Tingling or numbness in the hands or feet can be attributed to peripheral neuropathy, a condition commonly associated with metabolic disorders. This sensation can range from mild tingling to complete numbness and may affect daily activities and overall quality of life. Recognizing and addressing this symptom is crucial for minimizing further nerve damage and managing the underlying metabolic condition effectively.
High blood pressure – Metabolic disorders often have a significant impact on cardiovascular health. High blood pressure and elevated cholesterol levels are commonly observed in individuals with metabolic issues. These conditions can increase the risk of developing heart disease, stroke, and other cardiovascular complications. Monitoring blood pressure and cholesterol levels regularly is crucial to managing these risks and protecting long-term cardiovascular health.
Fatty deposits (lipomas) under the skin – In some cases, metabolic disorders can lead to the formation of fatty deposits known as lipomas under the skin. These benign growths can appear as small lumps and are usually not painful. While lipomas are generally harmless, their presence may suggest an underlying metabolic imbalance that requires further exploration.
Darkened patches of skin, especially around the neck or armpits (acanthosis nigricans) – Acanthosis nigricans is a skin condition characterized by darkened patches, typically around the neck or armpits. This hyperpigmentation can be linked to metabolic disorders such as insulin resistance or hormonal imbalances. Recognizing these darkened areas of skin can serve as a visual cue for potential metabolic issues that need attention.
Polycystic ovary syndrome (PCOS) – Polycystic ovary syndrome (PCOS) is a hormonal disorder that commonly affects women and is often associated with metabolic disturbances. Symptoms of PCOS include irregular menstrual cycles, excessive hair growth (hirsutism), and fertility issues. Identifying these symptoms and seeking appropriate medical care is important for managing PCOS and the potential metabolic implications it may have.
Difficulty concentrating or brain fog – Difficulty concentrating or experiencing brain fog is a symptom that can significantly impact daily life and cognitive function. Metabolic disorders can affect brain function and cognitive processes, leading to difficulties in concentration, memory, and overall mental clarity. Identifying and addressing this symptom is crucial for improving cognitive well-being and overall quality of life.

These are just some of the many symptoms that may be associated with metabolic disorders. It’s important to recognize that these symptoms should not be considered in isolation but rather as part of a broader clinical picture. Seeking medical evaluation and professional guidance is essential in order to identify and manage metabolic issues effectively. By understanding the signs and symptoms and seeking timely intervention, individuals with metabolic disorders can receive the necessary treatment and support to optimize their health and well-being.

Metabolic Health Team

Physicians

Annette Feigenbaum, M.D., Staff Physician; Associate Physician, UC San Diego

Fred Levine M.D., Ph.D., Staff Physician; Professor of Pediatrics, UC San Diego

Rebecca Mardach, M.D., Staff Physician

William L. Nyhan M.D., Ph.D., Staff Physician; Professor of Pediatrics, UC San Diego

Neurometabolic Clinic (see Neurology division)

Richard Haas, M.D., Staff Physician, Professor of Neurosciences and Pediatrics, UC San DiegoRelated Specialties

Genetics/Dysmorphology

We treat a wide range of metabolic conditions, including:

Diseases of lipid metabolism, such as MCAD (medium-chain acyl-coenzyme A dehydrogenase) deficiency
Disorders of amino acid metabolism, such as PKU (phenylketonuria)
Disorders of cholesterol and lipid metabolism, such as Tay-Sachs disease or Fabry disease
Disorders of organic acid metabolism, such as propionic acidemia and methylmalonic acidemia
Glycogen storage disorders, such as von Gierke disease or glycogenosis I

Research and Clinical Trials

The Division of Metabolic Medicine is dedicated to advancing both the basic science and clinical research in the field. Through our active research programs, we are constantly striving to uncover innovative therapies and treatment options for a range of metabolic disorders.

Within our clinical trials, we are currently investigating the potential of enzyme therapy for several diseases, including Gaucher disease, Hurler syndrome, Fabry disease, and Pompe disease. These progressive studies aim to evaluate the safety and efficacy of enzyme replacement therapy, which involves introducing therapeutic enzymes into the body to compensate for the enzyme deficiencies associated with these conditions. By targeting the underlying cause of these diseases at a molecular level, we hope to provide patients with new avenues for effective management and symptom relief.

Additionally, our research efforts extend to exploring the potential of molecular chaperones in treating phenylketonuria (PKU). PKU is a metabolic disorder that affects the body’s ability to break down an amino acid called phenylalanine, leading to its accumulation and causing various neurological complications. Through the use of molecular chaperones, we aim to enhance the folding and stabilization of proteins involved in phenylalanine metabolism, potentially improving the efficacy of existing treatment approaches and offering new therapeutic options for PKU patients.

Furthermore, our team is actively investigating the use of targeted peptides and cofactors in mitochondrial disease. Mitochondrial diseases are a diverse group of disorders that arise from dysfunction in the mitochondria, the energy-producing organelles within our cells. By leveraging the unique properties of targeted peptides and cofactors, we aim to enhance mitochondrial function and restore energy production in affected individuals. This research holds tremendous potential in addressing the underlying mechanisms of mitochondrial diseases and devising more targeted and personalized treatment strategies.

Through these ongoing clinical trials and research projects, our Division remains at the forefront of metabolic medicine. Our ultimate goal is to advance our understanding of these complex disorders, develop groundbreaking treatments, and improve the lives of patients living with metabolic diseases. By combining our expertise in both basic science and clinical applications, we strive to make significant contributions to the field and provide hope for individuals and families affected by these conditions.

For detailed information on the research activities of our team members, visit the UC San Diego Department of Pediatrics website.

Metabolic Disorder Resources

Metabolic Disorders: MedlinePlus – www.nlm.nih.gov/medlineplus/metabolicdisorders.html
National Organization for Rare Disorders
www.rarediseases.org
National PKU News – www.pkunews.org
Society for Inherited Metabolic Disorders – www.simd.org
United Mitochondrial Disease Foundation – www.umdf.org/site/pp.aspx?c=8qKOJ0MvF7LUG&b=7929671