Newborn Metabolic Disorders

Babies with metabolic disorders, also called “inborn errors of metabolism,” can suffer devastating injuries when their metabolic condition is not diagnosed and treated promptly. Hospitals and doctors can identify newborns with metabolic disorders using a simple blood test – known as “newborn metabolic screening” – shortly after birth. When these disorders are identified early, babies will receive proper treatment that usually allows them to escape injury and live productive lives. However, if these diseases are not caught in time, they likely will cause lifelong disabilities.

Senior partner Chuck Hehmeyer leads the Raynes Lawn Hehmeyer team devoted to advocating for children with metabolic disorders. Mr. Hehmeyer has represented families across the country whose infants with metabolic disorders either were not correctly diagnosed in time to prevent damage or received improper medical care after the correct diagnosis was made. He has vastly improved the quality of care provided to these children, literally changing the standard of care. On behalf of his clients, he has worked closely with the world’s leading doctors in this field.

If your child suffered a serious injury because his or her metabolic disorder was not correctly diagnosed shortly after birth – or even if your child was mistreated after diagnosis – they may have a claim for damages which can provide lifetime financial support. They may be able to secure substantial compensation for their losses and for the cost of their ongoing care. Contact Chuck Hehmeyer today to schedule a free consultation to learn more about the rights that you and your child have.

Failures To Diagnose Newborn Metabolic Disorders At Birth

Metabolic disorders may not be identified at birth because the lab that performs the test or the infant’s doctor makes a medical error. In some cases, the blood sample for the test may not be collected at the right time. If these disorders are not diagnosed early, infants may develop permanent disabilities. If your baby’s newborn metabolic disorder was not diagnosed soon enough, they may have legal rights to pursue damages from the parties that are responsible for the medical negligence.

Common Symptoms Of Metabolic Disorders

Infants and toddlers must eat a nutritious diet to develop and to maintain optimal health. When they have a metabolic disorder, this is much more difficult. Metabolic disorders prevent babies from being able to properly break down carbohydrates, fats, and proteins. This means that they may be unable to get the proper nutrition that their bodies require. More importantly, a metabolic disorder creates a block in the breakdown pathway of these substances, causing a buildup of toxic intermediate metabolites, which if not corrected promptly, can cause brain and other organ damage and ultimately death.

If you think that your baby might have a metabolic disorder, take him or her to a pediatrician for medical testing and diagnosis. The symptoms may show up as soon as a few days after birth and may be aggravated by minor illnesses, consuming certain foods, dehydration, or certain medications. Screening for metabolic disorders at birth allows infants to receive immediate treatment so that they can enjoy healthy and long lives.

Some common symptoms of newborn metabolic disorders include:

  • Vomiting
  • Lethargy
  • Abdominal pain
  • Seizures
  • Developmental delay
  • Failure to thrive
  • Poor appetite
  • Coma
  • Acidosis in the blood
  • High ammonia in the blood
  • Large amounts of Ketones in the urine

Usually, the symptoms of newborn metabolic disorders show up a few days after the infant’s birth. Metabolic disorders that are inherited are present when the infant is born. Today, routine screening of newborns allows most cases of newborn metabolic disorders to be diagnosed and promptly treated, which helps the babies to enjoy healthy development and long lives.

Hospitals should have policies in place for the routine blood screening of newborns for metabolic disorders. These tests should be performed around 24 hours after the babies are born and are typically done in the hospital instead of the pediatrician’s office. Routine screening can detect a broad variety of metabolic disorders.

Types Of Newborn Metabolic Disorders

There are many different newborn metabolic disorders. Newborn screening will identify the disorder. Some of the most common types of infant metabolic disorders include:

  • Galactosemia
  • Lysosomal storage disorders
  • Maple syrup urine disease
  • Metal metabolism disorders, such as Wilson’s disease
  • Phenylketonuria
  • GA1
  • MCADD

Galactosemia is a metabolic disorder in which the baby is unable to process milk. This disorder can cause liver damage and death from sepsis. Lysosomal storage disorders are conditions that cause toxins to build inside the lysosomes. This buildup can cause damage to the heart or liver and lead to stroke or nerve damage. There are multiple lysosomal storage disorders, including:

  • Fabry disease – Pain in the extremities
  • Gaucher disease – Pain
  • Krabbe disease – Progressive damage to the nerves
  • Hurler syndrome – Causes abnormal bone structure
  • Tay-Sachs disease – Causes progressive muscle weakness
  • Niemann-Pick disease – Causes enlargement of the liver

Maple syrup urine disease is a condition in which the baby’s urine smells similar to maple syrup. In this disease, the infant has an enzyme deficiency that causes the buildup of amino acids, particulalry leucine. The buildup of amino acids can cause damage to the brain

Metal metabolism disorders result in excessive amounts of metals building in the body. Hemochromatosis is a metal metabolism disorder in which the infant has too much iron in his or her body, causing liver damage. Infants with Wilson’s disease build toxic levels of copper in the body, which can cause damage to their brains and livers.

Phenylketonuria or PKU is another type of infant metabolism disorder. In infants with PKU, an enzyme deficiency can cause cognitive impairments or mental retardation.

Potential Damages In A Lawsuit

By filing a claim against the doctors and other health care professionals who failed to diagnose your infant’s newborn metabolic disorder in time, you may be able to recover monetary damages for their and your losses. Some of the types of damages that may be recovered include:

  • Past and future medical expenses for your child’s care
  • Rehabilitation and therapy costs
  • Out-of-pocket expenses related to your child’s condition
  • Your child’s pain and suffering
  • Disability damages
  • Other damages

Contact The Attorneys At Raynes Lawn Hehmeyer

Learning that your child has a devastating disease because of a previously undiagnosed newborn metabolic disorder can be overwhelming. If your child was not diagnosed promptly, you may have legal rights. Contact Chuck Hehmeyer at Raynes Lawn Hehmeyer for a confidential case evaluation by calling 1-800-535-1797.

If you or a loved one has been critically injured do to someone else’s negligence, please click here to fill out the contact form, or call 1-800-535-1797 and someone from our team will be ready to help.

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