Q: My 16-year-old daughter has begun to stay in her room and has even stopped going out with her friends. Do you think she could be depressed, and if so, could this be related to her PKU?

A: It’s quite possible that your daughter is depressed. One issue to consider is how long this change in behavior has lasted...Read more >

Q: My third-grade son is having difficulty with reading in school. Could this be because he has PKU? Would the treatment be different from someone without PKU?

A: It is possible that your son has dyslexia/reading disability. If he has dyslexia, it may or may not be related to his PKU...Read more >

Q: It seems that there are mixed messages about whether people with PKU reach their full potential as adults. What’s your opinion?

A: That’s an excellent question, and one to which there’s no easy answer because views on this issue have changed over the years...Read more >

Q: My child has PKU. I’m not certain if this is something her teachers need to know. I don’t want to give the teachers the impression that their expectations for my child should be different from those of other children. What do you think?

A: Teachers really appreciate being fully informed about any health issue a child has, and I suggest being completely honest with your child’s teachers...Read more >

Q: My husband has been off diet for about 15 years (he was told when he was 14 that he could go off diet). Since we’ve been married (9 years) I have tried to encourage him to go back on...

A: Thank you for encouraging your husband to return to the PKU diet. The question of the effects of being off diet is something that we are always looking at in the PKU population...Read more >

Q: My daughter has PKU and her dietitian told us that one of the first signs of high Phe is behavioral issues. She is only 7 weeks old right now...

A: During infancy, particularly in the first few months of life, we have seen that fluctuations in Phe levels are common in our patients...Read more >

Q: I am a 44-year-old female and particularly interested in finding out ANY and ALL information on networking and support for those individuals who were born with PKU and were NOT treated...

A: That is wonderful that you are an advocate for your sister regarding her care and treatment of PKU. Even though the damage done from untreated PKU during the early years is not reversible...Read more >

Q: Is obesity an issue with PKU? If so, what are the reasons for this?

A: This question regarding obesity and PKU is one that we are looking at currently in our own PKU population. We have some preliminary data ...Read more >

Q: My best friend’s 28-year-old daughter has PKU. She tried sapropterin (Kuvan^®) to bring her Phe level down, but it didn't work for her...

A: PEG-PAL is a new medication being developed to treat PKU. It falls into the general category of “enzyme substitution...Read more >

Q: We are in the process of adopting a little girl from China who, at age 21 months, was just tested for Phenylalanine with results of 26.2 mg/dl...

A: You ask a very difficult question and provide us all with good reason to be thankful for newborn screening for PKU...Read more >

Q: My son's Phe levels are very well controlled, but after reading the question posted to Dr. White regarding stable Phe levels, I wonder if...

A: Dr. White referenced some very important studies that suggest that both the average Phe level and the variation...Read more >

Q: My son is 7 months old. I am still so new to this, I just go by what the doctor tells me to feed him each...

A: Treating an infant with PKU requires the input of all members of the PKU care team working in collaboration...Read more >

Q: Please help us with some feeding concerns related to our very healthy two-year-old granddaughter...

A: Feeding a two-year-old can be challenging under any circumstances. A slowed growth...Read more >

Q: I have heard about a new home meter to measure Phe that is being developed. Can you tell me more about it?

A: Yes, a new home Phe meter is currently in test phase...Read more >

Q: Our 5-year-old son has PKU. We have tried to focus on educating him as to why he can't eat certain foods (ie, bad for his brain) and explain it in ways...

Dietitian's Response
A: One of my most successful and compliant diet-treated adults and her mother come to speak to our medical students every year...Read more >

Q: Our 5-year-old son has PKU. We have tried to focus on educating him as to why he can't eat certain foods (ie, bad for his brain) and explain it in ways he can understand for his age....

Psychologist's Response
A: This is a great question, and there may not be a "one size fits all" answer. There are...Read more >

Q: When I was 7 years old, I started having problems dealing with the fact that I had PKU and how unfair it seemed. There doesn't seem to be any books...

A: I think one of the most important factors in maintaining a good attitude about PKU is for parents and patients to get involved with their local support groups...Read more >

Q: I am an adult with PKU and I am trying to manage Phe levels. I have classic PKU, weigh 97 kilos (213 lbs), and I take three Vitaflo coolers a day (20 grams...

A: There has always been and continues to be some debate over the exact protein needs of PKU patients. There is some thought that PKU...Read more >

Q: We have an 8-year-old son with classic PKU. His Phe levels have been well controlled. We keep his levels consistently between 2-4 mg/dL...

A: First of all, great job on keeping Phe levels in such good control. This diet is such hard work so you all deserve a good pat on the back...Read more >

Q: How would you treat people in their 50s? What are the main issues you would address? I do feel the phenylalanine (Phe) spikes, especially now...

A: First, congratulations to you for maintaining the diet while you are in your 50s. It is not easy and you are an inspiration to others...Read more >

Q: Hi, my name is Michele and I am 26 years old. I'm not actually positive if I have PKU, but there have been things in my life that have made me wonder...

A: Your question is a good one because many of the signs and symptoms of PKU are common in other conditions...Read more >

Q: I am in high school and would like to write a paper on PKU for my science course. I would like to get a good grade. Can you advise me?

A: Many students with PKU who write a paper on PKU with correct information and describe their experiences get an A! Here’s what to do:Read more >

Q: We hear a lot about what is difficult about PKU. What’s good about PKU?

A: That’s a great question, since too often we focus on the challenges of maintaining a strict diet and dealing with...Read more >

Q: Who founded this alliance?

A: The NPKUA was formed in 2008 by sixteen state and regional PKU organizations across the country...Read more >

Q: What is currently the most promising approach for the treatment of PKU using gene therapy?

A: Injection into the liver of a laboratory-produced virus that carries the normal phenylalanine hydroxylase (PAH) gene is the treatment method ...Read more >

Q: Are patients who have PKU more likely to have elevated liver function tests? What is usually the cause...

A: Although phenylalanine hydroxylase, the enzyme deficient in classical PKU, is located in the liver, loss of this enzyme isn’t damaging to the liver...Read more >

Q: My son was diagnosed three weeks after birth with BH^₄ deficiency related PKU (dihydropteridine reductase [DHPR] deficiency)...

A: Phe is turned into Tyr by phenylalanine hydroxylase (PAH), the enzyme that is deficient in classical PKU. To function efficiently...Read more >

Q: I am an adult with PKU and I am having a really difficult time reducing Phe levels. What are the best ways to reduce Phe levels?

A: You have asked several questions that are key to many adults with PKU, especially those with classical PKU....Read more >

Q: My daughter had a PKU test at 59 hours after her birth. She was born at 34 weeks 1 day. The PKU test came back borderline for Phe...

A: This is one of those situations where you and your pediatrician are probably both correct...Read more >

Dr. van Calcar

Q: My son is currently taking PreKUnil^®. The clinic recommended 27 tablets per day, 9 with each of his 3 meals. If my son misses...

A: PreKUnil^®, is one of several commercial products that contain a variety of large neutral amino acids (LNAA). LNAAs are a group of amino acids that...Read more >

Q: How does one go about finding good maternal PKU counseling and care? I want the best – who is out there with...

A: There are many excellent clinics out there with experience following women with PKU throughout pregnancy. To find clinics that are near you, look on...Read more >

Q: I am having a lot of Phe spikes even though I am taking my formula. How can you tell if the prescribed formula is enough? I am taking...

A: The best way to determine if your formula intake is adequate for you is to talk with your metabolic dietitian. He/she can evaluate your formula intake to determine...Read more >

Q: Last Sunday I took a Phe level at 6:00 pm, which came back at 725 micromoles, and then I took a blood test two hours later at 8:00 pm which was 880 micromoles...

A: Phe levels in blood are not completely constant during the day, and vary with Phe intake. The increase in your Phe between 6:00-8:00 pm can be explained...Read more >

Q: In your cellular therapy study, how many cells do you expect to transplant to treat PKU patients?

A: Based on previous works conducted with animals and patients that our group has done during the last 15 years and published in scientific...Read more >

Q: What is glycomacropeptide and how is it used in the low-Phe diet required for PKU?

A: Glycomacropeptide (GMP) is a natural dairy protein that results from cheese production...Read more >

Q: Does maternal PKU mean that the baby will also have PKU?

A: Only rarely will the baby also have PKU. In fact, if the father does not have PKU, the father has only a...Read more >

Q: Hi, I am new to this site. I have a 3-year-old with PKU. How can I get affiliated with the medical food company to have them pay or reimburse for her foods?

A: I am assuming you are referring to low-protein foods, such as breads and pastas, rather than formula...Read more >

Q: The holidays are coming up quickly and I need some advice about how to handle my 2-year-old son’s PKU diet when we are at our relative’s home and surrounded by all the food that accompanies holiday celebrations. When he was younger, it seemed easier since he wasn’t into everything like he is now!

A: Keeping track of a toddler and what he eats is always a challenge when it comes to the holidays or any special event...Read more >

Q: My daughter has classical PKU and is in the 4th grade. Up to now, she’s been happy taking a lunch from home so I know exactly how much Phe she is eating. But now, she wants to take hot lunch just like her friends. Should I try and convince her that hot lunch is not a good idea or do other kids eat school lunches?

A: Many kids with PKU are able to have hot lunch with their peers, with some modifications...Read more >

Q: I was born with PKU but had a low level. I got my heel pricked often as a baby to test the Phe level in my blood, and then only went once yearly as I got older. Once I reached 16 or 17 years old, I didn't have to give a yearly blood sample anymore, they just said I need to meet with my doctor when I want to get pregnant. Also, I was never put on a special diet; I just had to avoid foods with phenylalanine. Am I still okay and will I ever need to go on a special diet (besides for pregnancy)? At times I feel weak and shaky and I don't know if it is because I need more protein, have low blood sugar, or something else. If you could help, that would be great.

A: It would be best for you to make an appointment with your local Metabolic Center for an evaluation...Read more >

Q: I have a 2-year-old son with PKU who is doing well and has good levels, but gives me trouble with finishing his formula almost every day. My dietitian tells me that he has to finish all his formula or he will not get enough protein. Can you explain what she means? Do you have any suggestions on how to get him to drink?

A: Your dietitian determines your son’s nutrition prescription based on his age, level of activity, growth requirements...Read more >

Q: I have a very active 12-year-old boy and he is always hungry. I have found several Web sites to purchase low-protein foods; the problem is that I am having trouble getting coverage for all the low-protein foods I need. He plays for a club soccer and has practice 3 to 4 times a week with two games a week. He always complains of not having enough energy to keep up with the other kids. How can I get him the right foods so that he is not as hungry without it costing so much?

A: It is wonderful to hear that your son is so active at such a young age. Selecting appropriate foods that fuel...Read more >

Q: We have a food co-op in our community that sells lots of things in bulk (without extensive nutritional labels). It seems like a good place to get dried fruits, rice cakes, puffed rice, spices/seasonings, etc. Is it risky to use such foods for a PKU diet?

A: There are many benefits to purchasing foods from a local co-op. It is a great place to buy basic ingredients...Read more >

Q: My son does pretty well in school, but his teacher noticed that it takes him longer than most children in his class to finish tests and other work. Is this common in children with PKU?

A: It is not uncommon for people with PKU to have problems in what we call information processing speed...Read more >

Q: OK, that makes sense, but now let me ask a follow-up question. Is slower information processing speed a part of the executive problems that many children with PKU have?

A: That’s actually a pretty complex issue. Many children have problems in both processing speed and executive abilities, but they’re not the same thing...Read more >

Q: I know that maintaining stable blood sugar levels is an important part of keeping diabetes under control. I’m curious if avoiding fluctuations in blood phenylalanine levels is important for people with PKU.

A: I’ll address this question from my perspective as a psychologi st who studies thinking abilities in people with PKU...Read more >

Q: Other than her dietary restrictions, my child leads a pretty typical life that is mostly similar to that of her classmates. Is it important for her to be around other children with PKU?

A: Our goal is that children with PKU will lead “pretty typical” or even extraordinary lives...Read more >

Q: My child’s doctor says that some children with PKU can have thinking and behavior problems. Should I have my child evaluated for such problems and, if so, how often should my child be evaluated?

A: If you have concerns, I suggest that you speak frankly with your doctor and get his/her opinion on the need for further evaluation and possible referrals...Read more >

Q: I’ve been hearing more and more about executive abilities as an area of concern for people with PKU. What are these abilities and how might problems with these abilities affect day-to-day life?

A: Executive ability (also called executive function) is a catch-all phrase used to describe higher-order cognitive abilities that allow us to keep track...Read more >

Q: Why are executive abilities particularly problematic for people with PKU?

A: There are two reasons why executive abilities are thought to be particularly problematic for individuals with PKU...Read more >

Q: My child’s doctor asked if we would be interested in participating in studies about PKU. What is to be gained by participating in this research?

A: A great deal! Although it is possible that you and your child will not benefit directly or immediately from participation in a study, research...Read more >

Q: I am an adult with PKU and I would like get back on treatment, do you have any recommendations on where to start?

A: It is wonderful that you want to manage your PKU. Here are a few tips to get you started on your journey back to PKU management...Read more >

Q: I am interested in trying the new formula that is available that is made with GMP (BetterMilk). Can you tell me a little bit more about this formula?

A: The GMP product or Glycomacropeptide is made from a protein that is derived from cheese whey. GMP is an intact protein that has...Read more >

Q: We have a six-month-old daughter with PKU and this is the first time we are traveling on an airplane with her. What do we need to do to get through security at the airport with her formula?

A: It is important to be prepared for travel, particularly when traveling on an airplane. The transportation security administration (TSA) has a Web site...Read more >

Q: My 6-year-old son is entering first grade and is now bringing his lunch to school. What do you feel is the best plan for school lunches?

A: Every child and family is unique and has to decide what works best for them. Some families decide to have their child bring their lunch ...Read more >

Q: How much Phe is in ground flaxseed? And if there is a vitamin supplement for my toddler with PKU, what would be the best?

A: Flaxseed is a grain slightly larger in appearance than a sesame seed that is often described as having a nutty flavor. It is particularly high in omega-3 fatty acids. Flaxseed is sold as...Read more >

Q: I’ve heard a lot about stem cells to treat genetic disease. Will stem cells help PKU?

A: Stem cells have certainly been the focus of a lot of hype lately, but to understand their possible use for PKU...Read more >

Q: Our new baby has been diagnosed with PKU and we were just told that her mutations are “R408W and IVS12nt1”. What does that mean and why is it important?

A: Our genetic information is carried in every cell in our body through a code made up of 4 different chemicals called...Read more >

Q: I read with great interest your earlier comments about the clinical trial for the new PKU treatment PEG-PAL. When can we expect it to come to general use?

A: As I discussed in a previous reply, PEG-PAL is an experimental enzyme substitution therapy to provide PKU patients with an alternative way...Read more >

Q: My husband and I would like to have children. I know that I need to get back on my PKU diet before I become pregnant, but I haven’t been taking formula since I was 15 years old and since we’ve moved to another state, I don’t know where to go for advice about restarting the diet.

A: As you know, it’s so important to get back on your diet before you become pregnant and there is help out there for you...Read more >

Q: I have been vigilant about making sure that my toddler hits his Phe allotment as exactly as possible, but it’s getting harder as he gets older and has more control over what he eats. If he has an allotment of 205 mg/day, what is the margin I should try to stay in +/-?

A: This is certainly a reasonable question to ask when faced with an independent toddler! The margin will likely be greater for those with...Read more >

Q: Can high Phe levels or eating really high Phe foods cause an allergic reaction in people with PKU?

A: Those with PKU can be allergic to certain foods just like anyone else. High protein foods, such as nuts or...Read more >

Q: I have severe classical PKU and was late diagnosed. I am the pitcher for my softball team and have noticed a draining sensation and excessive hunger after I play...

A: As with so many questions about the PKU diet, the best advice I can give you is to discuss your concerns with your metabolic dietitian...Read more >

Q: How long does it take high Phe foods to leave your body?

A: It takes about 4 hours for your body to digest the protein from food or the amino acids in formula...Read more >

Q: Why do medical professionals often prescribe products made with GMO ingredients when non-GMO products are available at comparable prices and availability?

A: I understand your concern given the information available in the popular press...Read more >

Q: My child did not respond to a trial with sapropterin (Kuvan^®). I’ve heard that a new enzyme shot is being developed to treat PKU. How soon do you think it will be before the shot is available? How does it work and will it be safe?

A: Individuals with PKU have defective phenylalanine hydroxylase enzyme (PAH); this enzyme is responsible for the conversion of the amino acid phenylalanine (Phe) to tyrosine...Read more >

Q: My son is now 9 months old and we are trying to get him to take his PKU formula from a cup, but he fusses and spits it out. He loves his formula out of a bottle. What can I do?

A: Many parents find themselves facing challenges when their infant begins to transition from a bottle to a cup...Read more >

Q: For our family vacation this year, we are camping in a tent at a state campground. Our two-year-old daughter has PKU and we need some suggestions for providing her food and formula in an easy, but safe manner.

A: Managing the PKU diet when camping requires some creativity, but a special diet should not prevent your family from enjoying any activity together...Read more >

Q: For my 8-year-old son who has PKU, my clinic recommends maintaining blood Phe levels between 2 and 6 mg/dL*. I’ve noticed that these levels are higher than Phe levels in blood of individuals without PKU. Wouldn’t it be better for my son to maintain Phe levels in the normal range?

A: Blood Phe recommendations for PKU are higher than Phe levels found in individuals without PKU...Read more >

Q: I’ve read that not only is a child’s average blood Phe level important for cognitive long-term outcome, but also the stability of the average Phe level. Can you explain this further?

A: This is a concept that was first raised in a 2008 publication from the research group in Boston...Read more >

Q: My daughter is having difficulty in school. Could her problems be PKU-related? If so, what steps can I take to help her improve her performance in school?

A: Your daughter’s difficulty in school certainly could be related to PKU. Although the intelligence (IQ) of most people...Read more >

Q: I’ve read that depression, anxiety, and other psychiatric symptoms can occur in people with PKU. My son seems more nervous than other children his age, but I’m not sure. How do I know if my child is especially nervous and what can I do about it?

A: You are correct. People with PKU have increased rates of anxiety, depression, and other psychiatric symptoms...Read more >

Q: I've heard that bone density is decreased in children with PKU. Should my child have a bone scan? Is it OK for him to play football?

A: A number of reports have suggested that children with PKU may have lower bone density than children without PKU. However...Read more >

Q: My teenage daughter is struggling with depression. I read on the list-serve that depression is more common in PKU. Are there any special medicines for depression in PKU?

A: It does appear that depression and other mental health issues can be related to elevated phenylalanine levels...Read more >

Q: What is the importance of spreading my formula out over the course of the day and does that affect my levels?

A: The nutrition and medical management for PKU is a low phenylalanine (Phe) diet maintained throughout life. Just the right amount of Phe is required...Read more >

Q: Do my protein and/or energy requirement(s) change when I am (or my child is) ill?

A: Illness (even minor illnesses such as viral infections) often has major metabolic effects on the body. Most importantly, it requires increased energy...Read more >