Metabolic Disorders and Other Rare Diseases


If your baby or young child was injured because of a metabolic disorder, congenital hypothyroidism or a congenital heart defect, you should know that medical malpractice may have been a cause. It is important to have an experienced team evaluate whether the injury resulted from a medical error.  Many children with these diseases who are injured have substantial claims for medical negligence which can result in a recovery that will help take care of their complex special needs for the rest of their lives.

Parents of a child who passed away as the result of medical negligence also may have a valuable and important claim.  Often such parents wish to bring suit to find out what really happened and try to assure that such a mistake never happens to another child.

Our firm has helped families of children with these problems for more than twenty years.  We have brought such claims in over 20 states and believe that we have more experience with these cases than any other firm in the country.

See the nine most common medical mistakes that result in serious injury to children with these problems.


One in every few thousand babies is born with a metabolic disorder, also called an “inborn error of metabolism.”  The most commonly known are PKU (phenylketonuria) and MCADD (medium-chain acyl-CoA dehydrogenase deficiency), but there are dozens of other metabolic disorders, screened for at birth, that can potentially affect a child.  Although individually rare, collectively metabolic disorders are not uncommon.  They are a significant source of injury and mortality.

Other disorders such as congenital hypothyroidism and critical congenital heart defects (CCHDs) are not metabolic disorders, but they can also potentially affect a child and are screened for at birth – during the same time as inborn errors of metabolism.

See articles on metabolic disorders by RLH attorneys Charles Hehmeyer and Martina McLaughlin.

See CDC webpage on newborn screening for CCHDs

Newborns with a metabolic disorder have a “typo” in their chromosomes which results in the creation of a poorly functioning enzyme, creating a block at the cellular level in the breakdown pathway of food, such as protein, fat or carbohydrates.  If allowed to go on long enough, metabolites build up behind the metabolic block and cause injury, typically to the brain or heart.

See Medscape interview with RLH attorney Charles Hehmeyer on metabolic disorders:

There is effective treatment for many metabolic disorders.  Children are provided a special diet low in the substance which they cannot properly metabolize.  This avoids dangerous levels of intermediate metabolites that cause harm.  Doctors also carefully manage illness in these children to avoid fasting, which otherwise would result in the metabolism of the body’s stored protein and fat that someone with this type of disease can’t perform safely.

The key to preventing injury from a metabolic disorder, congenital hypothyroidism or a critical congenital heart defect is to diagnose and treat the disease before there is damage.  Once injury occurs, it almost always cannot be reversed.

Today, screening shortly after birth is the cornerstone of treatment to prevent these tragedies.  For metabolic disorders and congenital hypothyroidism, that means taking a few blood drops from the baby’s heel, placing them on a filter paper and sending it to a lab for analysis.  Elevated metabolites signal a potential problem and the baby undergoes definitive diagnostic testing.

For critical congenital heart defects, all babies should have their blood oxygen measured with a “pulse oximeter,” which is placed on the toes or fingers of a newborn for a few seconds.  A low oxygen level is a warning that there may be a potentially fatal heart defect.  Many CCHDs are treatable.  An echocardiogram will quickly reveal if there is such a problem.

With early diagnosis and treatment, the outlook for children with these diseases is very good.  Most should go on to live productive and happy lives.  Without early diagnosis and treatment, however, usually there is severe, irreversible injury.

Today there are many centers working on clinical trials to improve treatment for metabolic disorders.  Some doctors are even trying to use gene therapy to cure these diseases.  Gene therapy holds a lot of promise, but parents must be very careful.  Twenty years ago there was an infamous case where a young man with a urea cycle defect (called “OTC”) enrolled in a clinical trial and died from treatment.  There were allegations of conflict of interest made against the doctors running the trial, resulting in litigation and even federal sanctions.

See article on death of Jesse Gelsinger:


The nine most common medical mistakes that result in serious injury to children with these problems:

Over the years, we have seen that the kinds of mistakes that typically hurt children with metabolic disorders can be divided into nine (9) general types:

1. Failure to offer comprehensive Newborn Screeningi.e., screening for some but not all of the disorders that a baby should be screened for.

See “The Tale of Two Zacharies” – Article discussing RLH California case about a hospital failing to offer the most up-to-date- newborn screening to a baby and a doctor’s delay in making the correct diagnosis.

A Drop of Blood Saves One Baby, Another Falls Ill -WSJ - June 17, 2004
Walshoz M. (2004 June, 17) Adrop pf Blood Saves One Baby; Another Falls Ill. Retrieved From


See Advisory Committee on Heritable Disorders in Newborns and Children Recommended Uniform Screening Panel.  This is a list of every disease your baby should have been screened for, as recommended by a panel of experts convened by the federal government.


2. Failing to screen at the right time.

Newborn screening can’t be done too early or too late, or babies will be missed.  Usually the blood sample should be collected at around 24 hours of age.  Some states also require a second newborn screen at 1-2 weeks of age.

See “Stanford Medical Clinic Hit by $70 Million Judgment,” discussing the case of a child missed because a nurse collected a newborn screening sample too early.


3. Failure to screen at alli.e., a nursing or hospital mistake. Sometimes nurses forget to collect the newborn screen; sometimes samples are mixed up; sometimes the sample is insufficient or contaminated and a new sample must be collected, but there is no follow-up.  Your pediatrician is obligated to check and make sure that your child received the appropriate newborn screening.  Failure to do so is negligence.


4. Hospital batching of newborn screening samples. In order to save shipping costs, hospitals sometimes wait until there is a large number of specimens before sending them to the lab for analysis. The delay, however, can result in serious injury to a newborn with a metabolic disorder and should not occur.

See “Deadly Delays” – Article about hospitals “batching” newborn screening samples to save money on shipping, causing a delay in diagnosis and injury to babies.


5. Failing to timely diagnose a metabolic disease in an ill newborn before screening results are available. Children with metabolic disorders often present with classic signs. Often, despite such signs, doctors check for infection first, without also checking for a metabolic disorder at the same time.  This can have tragic results and should not happen.

Children with metabolic disorders also may be missed well after the newborn period.  One frequent example is a disorder called “Wilson’s disease.”  Wilson disease is a genetic disorder that prevents the body from removing extra copper, causing copper to build up in the liver, brain, eyes, and other organs.  Normally excess copper is excreted in bile.  In Wilson’s disease that process is impaired.  Without treatment, high copper levels can cause life-threatening organ damage.  One telltale sign of Wilson’s disease is the development of Kayser-Fleischer rings on the cornea – the outer surface of the eyeball.  These golden brown rings are copper deposits.

Signs of Wilson’s disease include:

      • Fatigue, lack of appetite or abdominal pain.
      • A yellowing of the skin and the whites of the eye (jaundice)
      • Golden-brown eye discoloration (Kayser-Fleischer rings)
      • Fluid buildup in the legs or abdomen.
      • Problems with speech, swallowing or physical coordination.
      • Uncontrolled movements or muscle stiffness.

If your child has suffered a delay in the diagnosis of Wilson’s disease, you should consult with an expert legal team experienced in cases involving metabolic disease.


6. Laboratory error in reporting newborn screening results. Sometimes a lab technician simply fails to report a positive result. In contrast, sometimes, there is a flaw in the laboratory system itself.  Recently, some state labs have failed to adjust their cutoffs when evaluating blood from babies who were screened after the newborn period – even though experts have known for more than a decade that the cutoffs are different after a child is 7-10 days old.

See “The Price of Being Wrong” – Article discussing RLH Wisconsin case about a pediatrician’s failure to act on abnormal newborn screening result, causing severe brain injury to the baby; and RLH North Carolina case where state lab failed to update newborn screening policy resulting in severe injury to the baby.


7. Failure to consult a metabolic specialist and provide appropriate treatment to a child with a newly diagnosed metabolic disorder. A sick baby with a metabolic disorder is a medical emergency. Experts must be consulted immediately.  Treatment must begin immediately.  If it does not, that is negligence.


8. After diagnosis, failure to follow the emergency medical protocol established by the child’s specialist; this typically occurs in an emergency department or school. It is surprising how often medical providers fail to follow valid emergency protocols for children with rare diseases. This is particularly true for babies with metabolic diseases.  Many inborn errors require aggressive treatment with glucose when a baby is ill.  Some doctors unfamiliar with metabolic diseases are reluctant to administer large amounts of glucose to a baby with a blood glucose level that for the moment is in the normal range.  This can be a fatal mistake.

See RLH PowerPoint given to support groups for rare diseases on the subject of emergency protocols:


9. Failure to disclose the existence of a metabolic disorder. The knowledge that a child or parent has a metabolic disorder isn’t just important for that particular person, it also is critical knowledge for babies born later to people who are related – because those newborns also may have the disorder. The standard of medical care today is clear that when doctors and hospitals become aware that someone suffers from an inherited metabolic disease, that information must be communicated promptly and clearly to the patient or, in the case of minors, the patient’s parents.  Here is an article about an older California case where a baby died, an autopsy was performed, doctors realized the death was the result of a metabolic disorder but failed to communicate that fact clearly to the parents.  When those parents had another baby, he too died – because he was not treated quickly after birth.  He would have been treated if the parents had known they were carriers of the disease and had a high probability of having a baby with the disease.

See article on death of baby boy with LCHADD because his parents were not informed that his brother had LCHADD:

Here are examples of metabolic and other rare diseases that have been the subject of litigation:

        • Phenylketonuria (PKU)
        • Glutaric Acidemia Type I (GA 1)
        • Congenital Hypothyroidism (CH)
        • Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD)
        • Sickle Cell Disease
        • Wilson’s Disease
        • Critical Congenital Heart Defects
        • Congenital Adrenal Hyperplasia (CAH)
        • Propionic Acidemia (PA)
        • Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)
        • Maple Syrup Urine Disease (MSUD)
        • Guanidinoacetate Methyltransferase Deficiency (GAMT)
        • Isovaleric Acidemia (IVA)
        • Homocystinuria
        • Mitochondrial Disorders
        • Methylmalonic Acidemia (MMA)
        • Pterin Disorders (including Sepiapterin Reductase Deficiency and DHPR Deficiency)
        • Biotinidase Deficiency
        • Galactosemia
        • Urea Cycle Defects

Two prominent groups helping families with children who have metabolic disorders are the Organic Acidemia Association and the Fatty Acid Oxidation Defect (FOD) Family Support Group These organizations provide not only support but also education, resources, diet advice, information about research studies, and a real community of other families who have an affected child.