Pediatric Metabolism Care in Orlando

G6PD deficiency is a genetic disorder that most often affects males. The disorder occurs when the body doesn't produce enough of the enzyme glucose-6-phosphate dehydrogenase (G6PD). G6PD helps red blood cells function, so a deficiency can trigger a breakdown of red blood cells.

Symptoms of the disorder, which include jaundice, infection and diabetic ketoacidosis, may be triggered by infections, certain medication, stress, or certain foods. Depending on the specific mutation the severity of the condition may vary. Diagnosis can only be made by blood tests and genetic testing.

Galactosemia is a disorder that affects how the body processes a simple sugar called galactose. This metabolic disorder is caused by a genetic mutation in a particular gene. Classic galactosemia is the most common and severe form of the condition. In infants, the condition can be life-threatening if not treated promptly with a low-galactose diet. Symptoms include:

• A failure to gain weight and grow as expected (failure to thrive)
• Yellowing of the skin and whites of the eyes (jaundice)
• Feeding difficulties
• A lack of energy (lethargy)
• Liver damage
• Bleeding

Treatment for galactosemia typically involves the restriction of lactose/galactose from a child’s diet. A child with galactosemia will never be able to properly digest foods containing galactose. Currently, there is no chemical or drug substitute for the missing enzyme. An infant diagnosed with galactosemia will simply be changed to a formula that does not contain galactose. With care and continuing medical advances, most children with galactosemia can now live normal lives.

Phenylketonuria (PKU) is a rare inherited disorder that causes an amino acid called phenylalanine to build up in the body. PKU is caused by a genetic defect. Most children with the disorder still require a special PKU diet to prevent intellectual disability and other complications. PKU signs and symptoms can be mild or severe and may include:

• A musty odor in the breath, skin or urine, caused by too much phenylalanine in the body
• Neurological problems that may include seizures
• Skin rashes (eczema)
• Fair skin and blue eyes, because phenylalanine can't transform into melanin
• Abnormally small head (microcephaly)
• Hyperactivity
• Intellectual disability
• Delayed development
• Behavioral, emotional and social problems

From all levels of practice, the team is committed to family-oriented care and patient-focused comfort for addressing thyroid problems, including hypothyroidism and hyperthyroidism.

• Hyperthyroidism (overactive thyroid gland): A person with hyperthyroidism has a thyroid gland that is producing too much of the thyroxine hormone. Given the importance of the thyroid gland – it impacts all of the body’s cells in one way or another – it’s easy to understand why a dysfunctional thyroid can cause a variety of significant symptoms ranging from unexpected, sudden weight loss to a racing or irregular heartbeat, sweating, fatigue, sleeping difficulties, hair and skin changes, trembling, menstrual changes, and increased sensitivity to heat.
• Hypothyroidism (underactive thyroid gland): Hypothyroidism in children, also called low thyroid or underactive thyroid, is a condition in which the thyroid gland does produce enough hormones essential for normal body function. Hypothyroidism is the most common thyroid disorder. In some cases, a mother’s thyroid disorder treatment may affect her unborn child’s thyroid function. Signs and symptoms of hypothyroidism in children are very different that when the condition occurs in adults. It’s important for all infants to be screened for low thyroid.