Family Resources - Genetic Conditions

General Information for Families

Tyrosinemia is a hereditary genetic inborn error of the metabolism that causes severe liver disease in infancy. Affected persons commonly develop cirrhosis of the liver and will eventually require liver transplantation to survive.

Inheritance and Frequency

The gene defect for Tyrosinemia is an autosomal recessive genetic trait and is unknowingly passed down from generation to generation. This faulty gene only emerges when two carriers have children together and pass it to their offspring. For each pregnancy of two such carriers, there is a 25% chance that the child will be born with the disease and a 50% chance that the child will be a carrier for the gene defect.

Studies show that 1 of every 100,000 live births will have Tyrosinemia.

Signs & Symptoms

The severest form of the disease causes symptoms within the first months of life including poor weight gain, enlarged liver and spleen, swelling of the legs and increased tendency of bleeding.

Long Term Effects
Even with therapy, death frequently occurs within six to nine months of life for sufferers of the severe form. Children with the less severe form also suffer from enlargement of the liver and spleen, poor weight gain, vomiting and diarrhea.

Treatment
A diet low in phenylalanine, methionine and tyosine is followed to keep affected children as healthy as possible for liver transplantation, which is the only proven treatment thus far for the disease.

Source: savebabies.org

Family Questions & Concerns

What are amino acid disorders?
Amino acid disorders (AA disorders) cause the body to have problems breaking down certain proteins. The body breaks down, or metabolizes, food. The food is changed into nutrients they body can use, and the body gets rid of the chemicals it does not need. Enzymes (chemicals that do jobs in the body) usually help break down food. A person who has an AA disorder is missing a specific enzyme, or the enzyme is not working as well as it should. This prevents the body from breaking down protein in food, and toxic chemicals build up in the body. The build up of toxic chemicals can cause serious damage to organs. Each enzyme deficiency causes a different AA disorder. A special diet and medication can prevent most problems.

What causes AA disorders?
AA disorders are inherited when both parents pass an abnormal AA gene to their child. This means both parents are carriers of a particular AA disorder. Carriers do not experience any health problems related to the AA disorder. When two carriers of a particular AA disorder have children together, there is a 1 in 4 (25%) chance for each baby to have the AA disorder.

How are AA disorders detected?
Newborn screening is done on tiny samples of blood taken from the infant’s heel 24-48 hours after birth. After a positive newborn screen, testing at special labs must be done to know for sure if a baby has an AA disorder.

What problems can AA disorders cause?
An AA disorder is different for each child. Untreated AA disorders can cause vomiting, eye problems, liver problems, mental retardation, and possibly coma or death. It is extremely important to follow the doctor’s instructions about caring for a child with an AA disorder.

What is the treatment for AA disorders?
AA disorders can be treated. People with AA disorders should not eat certain proteins that the body has trouble breaking down. Medication may help the body get rid of harmful toxins. The treatment is life-long. For children who have an AA disorder:

The child should have a primary care doctor, a pediatric metabolic specialist, and a dietician. These health professionals give the child good medical care and educate the family about the special diet.
Families are taught to read labels carefully when shopping for food.
Treatment for an AA disorder is lifelong, and a child with an AA disorder should see a doctor regularly.

Source: Minnesota Newborn Screening Program

National and State Specific Family Resources

View National and State Specific Family Resources

Tyrosinemia Prevalence by State

The Region 4 Newborn Screening Data, summarized annually, provides detailed data on newborn screening results within Illinois, Indiana, Kentucky, Michigan, Minnesota, Ohio and Wisconsin. It is provided here to: assist families and physicians in knowing the relative number of confirmed annual cases for the disorder within each state and how it compares to other states in the region. assist families and specialists across states in connecting with specialists who may have experience treating a specific rare disorder. It is important to note that ongoing developments in the sophistication of technology allows states to progressively increase the number of disorders they screen in their program.

2005 Confirmed Cases
State:	IL	IN	OH	MI	WI	MN	KY	TOTALS
Total Births:	175659	85570	144509	124942	70934	71058	52222	724894
Total Specimens:	182799	107983	151193	133680	74887	73857	0	724399
Tyrosinemia Type I	0	0	0	0	0	0	0	0
Tyrosinemia Type II	0	0	0	0	0	0	0	0
Tyrosinemia Type III	0	0	0	0	0	0	0	0

2004 Confirmed Cases
State:	IL	IN	OH	MI	WI	MN	KY	TOTALS
Total Births:	177603	87942	142023	134103	66625	70579	50930	729805
Total Specimens:	183727	107852	151296	127572	68895	71791	53583	764716
Tyrosinemia Type I	0	0	0	0	0	0	0	0
Tyrosinemia Type II	0	0	0	0	1	0	0	1
Tyrosinemia Type III	0	0	0	0	0	0	0	0

2003 Confirmed Cases
State:	IL	IN	OH	MI	WI	MN	KY	TOTALS
Total Births:	182590	86382	151983	130937	70053	70157	55281	747383
Total Specimens:	185033	109133	152211	128970	73362	71095	53381	773185
Tyrosinemia Type I	0	0	0	0	0	0	0	0
Tyrosinemia Type II	0	0	0	0	0	0	0	0
Tyrosinemia Type III	0	0	0	0	0	0	0	0

2002 Confirmed Cases
State:	IL	IN	OH	MI	WI	MN	KY	TOTALS
Total Births:	180622	84618	148720	129967	68560	68025	54233	734745
Total Specimens:	184033	109360	152561	127978	71634	67839	52775	766180
Tyrosinemia Type I	0	0	0	0	0	0	0	0
Tyrosinemia Type II	0	2	0	0	0	0	0	2
Tyrosinemia Type III	0	0	0	0	0	0	0	0

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