PKU & ALLIED DISORDERS
Approximate National incidence for some metabolic disorders:
PKU: 1 in 10,000 births.
MSUD: 1 in 225,000 births.
Homocystinuria: 1 in 200,000 births.
Citrullinemia: roughly effecting 1 in 60,000 births.
Urea Cycle Disorders: roughly est. to be 1 in 25,000 births.
Importance of Newborn Screening
Although each metabolic disorder included in the expanded newborn screening programs are rare, metabolic disorders in general have the potential to affect 1 in 2,400 infants annually. Routine newborn screening in the US began in the 1960’s for a single biochemical genetic disorder, phenylketonuria (PKU). Over the years, other metabolic disorders were added to the routine screenings.
In Arizona
Currently PCH metabolic team has nearly 200 patients in AZ (somewhere between 175 and 200) with PKU.
And approximately another 200 patients with another type of metabolic disorder such as MSUD, a Urea Cycle Disorder, Citrullinemia, Organic Acidemias (OAs) and more.
Early Detection is Critical
For those with metabolic disorders, early diagnosis and treatment are critical. Although babies born with these disorders may appear to be normal at birth, with time the disorder may have a devastating or lethal effect on the infant’s health and development.
Importance of Treatment:
Without treatment, babies with PKU usually develop symptoms within a few months. PKU symptoms can be mild or severe and may include: mental retardation, behavioral/social problems, seizures, tremors, jerking movements in the arms & legs, hyperactivity, stunted growth, skin rashes (eczema), small head size (microcephaly), musty odor in the child's breath, skin, or urine.
Allied Disorders such as Citrullinemia, Maple Syrup Urine Disease (MSUD), and Organic Acidemias (OAs) without treatment a toxic effect interferes with brain and or body function and symptoms progress rapidly to seizures, coma, and death.
If treatment is started early and babies remain with the treatment, they can develop normally and have a normal IQ. Treatment includes life-long dietary and frequent blood monitoring of the amino acids in their blood and/or urine, medical food and formula, and restricted diets to prevent metabolic crises.
Prior to ANPAD, these patients and their families rarely met.. They was very little coordination or support outside the hospital.
Support for the whole family
These metabolic disorders are rare and their names are not very well known, but these conditions are very real to the individuals and their families. Due to the patient’s inability to process protein, most are restricted to the amount of protein in one egg per day so it is imperative they use medical food supplements which can cost up to $16,000/monthly, and medications up to $500,000/year.
These disorders effect the entire family, ANPAD includes education opportunities and events to include all family members including:
workshops, family community events, educational and research talks, camps and more. Support ANPAD today.
also see Amino Acid Disorders Information