Metabolic Disorders

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Labor, delivery, and the days that follow are a critical time in a baby’s life. What doctors and hospitals do – or don’t do – during this time can have lifelong consequences for children and their families. This includes promptly diagnosing and treating conditions that threaten a baby’s health and development. Metabolic disorders in newborns – sometimes called “inborn errors of metabolism” – are just such conditions. When metabolic disorders are identified and addressed quickly, the baby usually can be spared injury. When not caught in time, however, permanent disabilities often result. 

Fortunately, administering a simple blood test – newborn metabolic screening – shortly after birth can catch these disorders and allow doctors to take immediate action to prevent injury and damage. Unfortunately, despite this simple way to identify metabolic disorders, many doctors fail to administer the appropriate test or take other steps to identify and treat an affected child. This can leave families reeling, wondering what went wrong, and worrying about a suddenly dimmer future for their child.

If your baby suffered a serious injury because doctors did not diagnose a metabolic disorder – or if doctors improperly or inadequately treated your child after diagnosis – you may have a medical malpractice claim for compensation that can provide lifetime financial support. 

At Berman & Simmons, we work with families living through the trauma of realizing that their child’s metabolic disorder and the challenges that follow resulted from preventable medical errors by doctors, nurses, or other healthcare providers. In scores of cases, our birth injury lawyers have recovered significant compensation for the families of children who needlessly suffer due to medical negligence.  

What Are Newborn Metabolic Disorders and Why Are They So Harmful?

Our bodies must absorb and process the nutrients in the foods we eat for our bodies to function correctly. This is especially critical for infants and toddlers whose ongoing development hinges on getting a sufficient supply of nutrients and breaking them down to fuel their bodies. 

Metabolic disorders interfere with this essential process, preventing a baby from properly breaking down protein, carbohydrates, and fats. While they are not getting the nutrition their bodies need, metabolic disorders block the breakdown pathways of these substances, causing a buildup of toxic intermediate metabolites. If this buildup is not caught and relieved quickly, it can cause brain damage, harm other organs, or ultimately result in the child’s death.  

Types of Newborn Metabolic Disorders

There are several different newborn metabolic disorders, including: 


Galactosemia is a metabolic disorder that makes a baby unable to process milk. It can cause liver damage and death from sepsis. 

Lysosomal Storage Disorders

Lysosomal storage disorders are inherited metabolic diseases characterized by an abnormal buildup of toxic materials in the baby’s lysosomes due to enzyme deficiencies. This buildup can damage the heart or liver and lead to stroke or nerve damage. There are nearly 50 types of these disorders, including: 

  • Fabry disease. 
  • Gaucher disease. 
  • Krabbe disease.
  • Hurler syndrome.
  • Tay-Sachs disease.
  • Niemann-Pick disease.

Maple Syrup Urine Disease

With maple syrup urine disease, the baby’s urine smells like maple syrup due to an enzyme deficiency that causes a buildup of amino acids, particularly leucine. This buildup can cause brain damage if left untreated.

Metal Metabolism Disorders, Such as Wilson’s Disease

Metal metabolism disorders cause an excessive amount of metals to build up in the body. One such metal metabolism disorder is hemochromatosis, which leads to too much iron in the child’s body, causing liver damage. Babies with Wilson’s disease accumulate toxic levels of copper in the body, which can damage their brains and livers.


Infants with phenylketonuria, or PKU, have an enzyme deficiency that can cause cognitive impairments or developmental disabilities.

Other Fatty Acid Oxidation or Urine Organic Acid Disorders

Diseases like glutaric aciduria type 1 (GA 1), isovaleric acidemia (IVA) and medium-chain acyl-CoA dehydrogenase deficiency (MCAD Deficiency) are very treatable.  Anytime a child with such a disorder is seriously injured, there should be a careful investigation of what happened to be sure the cause was not medical malpractice.

Symptoms of Newborn Metabolic Disorders

When doctors fail to diagnose or treat a metabolic disorder in a newborn shortly after birth, parents can go home with their child, not knowing they suffer from a serious medical condition. Symptoms may develop as soon as a few days after birth and may be aggravated by minor illnesses, eating certain foods, dehydration, or medications. 

Common symptoms of newborn metabolic disorders include:

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

Failure to Timely Diagnose Newborn Metabolic Disorders in the Neonatal Period Can Be Medical Malpractice

While symptoms of a newborn metabolic disorder may not manifest until several days after the child’s birth, doctors and hospitals can identify the condition shortly after delivery by administering a simple blood test or by providing the correct diagnostic testing. Damages recoverable in a birth injury lawsuit arising from an undiagnosed and untreated newborn metabolic disorder include:  

  • Past and future medical expenses for your child’s care.
  • Ongoing rehabilitation, therapy, or special education costs.
  • Out-of-pocket expenses related to your child’s condition.
  • Your child’s pain and suffering.
  • Disability damages.
  • Other damages.

Berman & Simmons: Maine’s Premier Birth Injury Law Firm

No other law firm in Maine can match the skill, experience, and tenacity of Berman & Simmons’ attorneys in birth injury and medical malpractice cases, including those arising from undiagnosed or untreated newborn metabolic disorders. We are widely recognized as the best personal injury lawyers in Maine and among the best in the U.S. and have recovered over $1 billion for our injured clients. 

If your child has a metabolic disorder you believe doctors failed to identify and treat, please contact Berman & Simmons to arrange your free initial consultation. 

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