Misdiagnosis in Newborns: Inborn Metabolic Disorders

Metabolic disorders are quite common. While not always diagnosed early in childhood, many children experience metabolic disorders right at birth, with symptoms often not present until later in life. Symptoms of these metabolic disorders are quite varied, with many pediatricians and parents not even aware the complication exists, often misdiagnosing the symptoms as something other than a metabolic complication.

Symptoms of a metabolic disorder that are commonly misdiagnosed include those associated with exercise intolerance, persistent diarrhea, cardiovascular complications, chronic muscle cramping, complications of the pancreas and even peripheral neuropathy. Since children are not very good at describing pain and symptoms, pediatricians must rely upon medical technology to aid in making the right diagnosis.

Since most inborn metabolic disorders are associated with a genetic disorder, parents can aid in the diagnosis of the complications in their child by describing any familial conditions that may exist. Upon routine testing by the pediatrician, should a firm diagnosis not be reached, your child may require evaluation by a specialist in metabolic and rare disease. Often, these examinations are initially performed by an infectious disease specialist who rules out the risk of infection and, then, begins the process of examining for other complications, such as inborn metabolic disorders.

Because some inborn metabolic disorders can significantly impair a child's growth and development, it is important to obtain this diagnosis early. Remedies for inborn metabolic disorders may involve the use of medications but, in some cases, may involve the elimination of specific foods or dietary products. Without making this immediate and prompt change, an inborn metabolic disorder can result in long term mental retardation and physical growth impairment.

When no treatment options are available for your child's inborn metabolic disorder, it is still better to know what the complication is rather than struggle with the unknown. When no cure for the complication has been found, your child may continue to struggle, even suffering a shortened life span. Still, with early diagnosis of the inborn metabolic disorder, the symptoms of the complication can be more readily managed providing for a better quality of life versus no diagnosis and management at all.

As with any complication that persists and impairs your child's quality of life, it is important to obtain medical diagnosis early. When your child suffers from symptoms and health complications that are not easily remedied by your pediatrician, ask for referral to a specialist for investigation into an inborn metabolic disease. While some inborn metabolic diseases do not present until adulthood, if a child is suffering from premature symptoms, the diagnosis should be made timely and treatment, if available, should be provided. Without treatment, your child's inborn metabolic disorder may significantly impair growth and development.