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Conditions
Neonatal metabolic complications
PKU

PKU

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Phenylketonuria (PKU) is a metabolic disorder passed down in a family, where the body lacks an enzyme in the liver necessary for digesting certain amino acids.

Dr. Kat Kat reviewed this

33 years experience

Is a type of:

Metabolic brain diseases • Neonatal metabolic complications

How long it usually lasts:

Chronic (lasts years to lifelong)

How common it is:

Very rare

Symptoms

Tremor
Hyperactivity
Pale skin
Shaking hands or tremor
Small head
Load more

Medications

Ratings show how effective doctors think these medications are at treating PKU
Iron supplements
Fish oil
Kuvan
Ferrous sulfate
Sapropterin

Other treatments

Diet changes

Tests

Newborn screen

Related questions

A 39-year old asked:

What is PKU?

1 doctor answer • 2 doctors weighed in

A 38-year old asked:

How id PKU inherited?

1 doctor answer • 1 doctor weighed in

A 29-year old asked:

what are symptoms of pku?

1 doctor answer • 4 doctors weighed in

A 33-year old asked:

What are the symptoms associated with PKU?

1 doctor answer • 3 doctors weighed in

A 42-year old asked:

What foods should you avoid if you are diagnosed with pku?

1 doctor answer • 1 doctor weighed in

A 34-year old asked:

Can an individual with pku stop following the special diet ever?

1 doctor answer • 3 doctors weighed in

A 30-year old asked:

What is a pku done on the babay and what happens if it comes back abnormal?

1 doctor answer • 1 doctor weighed in

A 23-year old female asked:

Im too small only 93 lbs will ensure pkus help?

1 doctor answer • 1 doctor weighed in

A 45-year old asked:

What can a pku patient safely eat?

1 doctor answer • 2 doctors weighed in

A 38-year old asked:

How are abnormal pku/thyroid results relayed?

1 doctor answer • 5 doctors weighed in

A 35-year old asked:

Why must there be phenylalanine in the pku diet?

1 doctor answer • 2 doctors weighed in

A 25-year old female asked:

Why/how does PKU lead to albinism or hypoigmentation?

1 doctor answer • 1 doctor weighed in

A 42-year old asked:

My doctor talked over my head. We are confused. What is PKU?

1 doctor answer • 1 doctor weighed in

A 37-year old asked:

Following the detection of phenylketonuria or pku in an infant, what is the treatment?

1 doctor answer • 3 doctors weighed in

A 46-year old asked:

Does anyone know the percent of the U.S. population affected with phenylketonuria (pku)?

2 doctor answers • 3 doctors weighed in

A 25-year old asked:

Are there effective alternative therapies for PKU?

1 doctor answer • 1 doctor weighed in

A 41-year old asked:

What are the best foods for someone pregnant with pku?

1 doctor answer • 2 doctors weighed in

A 42-year old asked:

I want to know what's the genetic disorder called pku?

1 doctor answer • 1 doctor weighed in

A 41-year old asked:

Is pku and huntington disease the same disease entity?

1 doctor answer • 5 doctors weighed in

A 35-year old asked:

What fruits and veggies can you eat with pku or phenylketonuria, if you're trying to be vegan?

1 doctor answer • 2 doctors weighed in

A 47-year old male asked:

A person needs 1 PAH mutation from each parent to have PKU/HPA. Do they need to be the same mutation or can one be ie A300s and one be E390G?

1 doctor answer • 2 doctors weighed in

A 28-year old asked:

i have a 2 year old duaghter that was diagnosed with pku at birth. i have a terrible time getting her to eat. what are some tasty options to try?

2 doctor answers • 6 doctors weighed in

A 34-year old female asked:

My daughters PKU came back with elevated tyrosine. A repeat test showed elevated again. We are waiting on plasma & organic urine results. Noone seems alarmed but her father and me. Tyrosinemia is serious to me. Are there other things that cause elevates

1 doctor answer • 3 doctors weighed in

A 39-year old asked:

Are there some prenatal tests for phenylketonuria (pku), or just the newborn screening test?

1 doctor answer • 1 doctor weighed in

A 39-year old asked:

If PKU patients continue to consume protein does the brain damage continue?

1 doctor answer • 3 doctors weighed in

A 27-year old female asked:

I have PKU , IBS and recently found out Iron Deficient. I have an upset stomach, diarrhea, headache, bleeding from my anus and nausea. what could it b?

1 doctor answer • 3 doctors weighed in

A 46-year old asked:

What exactly is phenylketonuria?

1 doctor answer • 3 doctors weighed in

A 39-year old asked:

What can people eat with phenylketonuria? Are they able to go to McDonald's?

1 doctor answer • 1 doctor weighed in

A 34-year old asked:

Is phenylketonuria treatable?

1 doctor answer • 1 doctor weighed in

A 59-year old asked:

Bowl gas?

1 doctor answer • 1 doctor weighed in

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