Phenylketonuria

Definition: Phenylketonuria

Phenylketonuria

Noun

1. A genetic disorder of metabolism; lack of the enzyme needed to turn phenylalanine into tyrosine results in an accumulation of phenylalanine in the body fluids which causes various degrees of mental deficiency.

Specialty Definition: Phenylketonuria

Phenylketonuria (PKU) is a human genetic disorder that occurs in about 1 in 15,000 births, but the incidence varies widely in different human populations from 1 in 4,500 births among the Irish to fewer than one in 100,000 births among the population of Finland.

PKU usually is caused by a defective gene for the enzyme phenylalanine hydroxylase (PAH). It is inherited as an autosomal recessive trait. A rarer form of the disease occurs when PAH is normal but its cofactor tetrahydrobiopterin (BH₄) is not synthesised by the patient.

This enzyme normally converts the amino acid phenylalanine to tyrosine. If, due to a faulty or missing enzyme, this reaction does not take place, levels of phenylalanine in the body can be far higher than normal, and levels of tyrosine lower than normal. Excess phenylalanine in the blood harms brain development in the child, leading to mental retardation; low levels of tyrosine leads to lowered production of the pigment melanin, so children with this condition tend to be fair haired and blue eyed. The excess phenylalanine is converted instead into phenylketones, which are excreted in the urine - hence the name for this condition. The sweat and urine of an affected child has a musty odour due to these ketones.

The problem is readily detectable within days of birth from a small blood sample -- the Guthrie heel prick test, so screening for phenylketonuria is done routinely in most industrialised countries, usually combined with testing thyroid function and other genetic disorders of metabolism. If the condition is diagnosed early enough, an affected child can grow up with normal brain development, by eating a special diet low in phenylalanine. In those patients with a deficit in BH₄ production, treatment consists of giving this cofactor as a supplement.

External links

http://www.ehendrick.org/healthy/00060590.html
http://www.ultranet.com/~jkimball/BiologyPages/P/Phenylketonuria.html

Commercial Usage: Phenylketonuria

Domain	Title
References	The Official Parent's Sourcebook on Phenylketonuria (reference) (more reference examples)

Books	Phenylketonuria and some other inborn errors of amino acid metabolism: biochemistry, genetics, diagnosis, therapy (reference) Practical Developments in Inherited Metabolic Disease: DNA Analysis, Phenylketonuria and Screening for Congenital Adrenal Hyperplasia (reference) (more book examples)
Source: compiled by the editor from various references; see credits.

Photo Album: Phenylketonuria

Non-Fiction Usage: Phenylketonuria

Subject	Topic	Quote
Health		In a minority of cases, disorders such as fragile X syndrome, tuberous sclerosis, untreated phenylketonuria (PKU), and congenital rubella cause autistic behavior. (references)
		Classical phenylketonuria (PKU) is a rare metabolic disorder (and orphan disease) that usually results from a deficiency of a liver enzyme known as phenylalanine hydroxylase (PAH). (references)
		It may occur in association with spinal cord injury, multiple sclerosis, cerebral palsy, anoxic brain damage, brain trauma, severe head injury, some metabolic diseases such as adrenoleukodystrophy, and phenylketonuria. (references)
Source: compiled by the editor from ICON Group International, Inc.; see credits.

Usage Frequency: Phenylketonuria

"Phenylketonuria" is generally used as a noun (singular) -- approximately 100.00% of the time. "Phenylketonuria" is used about 50 times out of a sample of 100 million words spoken or written in English. Its rank is based on over 700,000 words used in the English language. Some parts-of-speech are not covered due to the samples used by the British National Corpus. (note: percents less than one-hundredth of one percent have been omitted)

Frequency of Internet Keywords: Phenylketonuria

Modern Translations: Phenylketonuria

Language		Translations for "phenylketonuria"; alternative meanings/domain in parentheses.
Danish		phenylketonuria, oligophrenia phenylpyrouvica. (various references)

Dutch		phenylketonurie, phenylketonuria. (various references)

French		phénylcétonurie. (various references)

German		Phenylurie, Phenylketonurie. (various references)

Italian		fenilchetonuria. (various references)

Japanese Kanji		フェニルケトン尿症 . (various references)

Japanese Katakana		フェニルケトンにょうしょう. (various references)

Pig Latin		enylketonuriaphay
Source: compiled by the editor from various translation references.

Derivations: Phenylketonuria

Anagrams: Phenylketonuria

Scrabble® Enable2K-Verified Anagrams
	Words within the letters "a-e-e-h-i-k-l-n-n-o-p-r-t-u-y"
	-3 letters: polyurethane.
	-5 letters: anopheline, enkephalin, euphoriant, euryhaline, hypertonia, inherently, leukopenia, nalorphine, neuropathy, neutrophil, peritoneal.
	Words containing the letters "a-e-e-h-i-k-l-n-n-o-p-r-t-u-y"
	+1 letter: phenylketonurias.
Source: compiled by the editor from various references; see credits. SCRABBLE® is a registered trademark. All intellectual property rights in and to the game are owned in the U.S.A and Canada by Hasbro Inc., and throughout the rest of the world by J.W. Spear & Sons Limited of Maidenhead, Berkshire, England, a subsidiary of Mattel Inc. Mattel and Spear are not affiliated with Hasbro.

Alternative Orthography: Phenylketonuria

Hexadecimal (or equivalents, 770AD-1900s) (references)

50 68 65 6E 79 6C 6B 65 74 6F 6E 75 72 69 61

Leonardo da Vinci (1452-1519; backwards) (references)

American Sign Language (origins from 1620-1817 in Italy and, especially, France) (references)

⁼

Semaphore (1791, in France) (references)

Braille (1829, in France) (references)

Morse Code (1836) (references)

.--. .... . -. -.--. .-.. -.- . - --- -. ..- .-. .. .-

Dancing Men (Sir Arthur Conan Doyle, 1903) (references)

Thumbnail	Description & Credit
	Blood taken is usually screened for Phenylketonuria (PKU), HIV, and cystic fibrosis, to name only a few disease processes that are detectable in this manner.Credit: CDC.
Source: compiled by the editor from various references; see credits.

Parts of Speech	Percent	Usage per 100 Million Words	Rank in English
Noun (singular)	100%	50	48,117

Expression	Frequency per Day
phenylketonuria	444
phenylketonuria pku	5
phenylalanine phenylketonuria	4
phenylketonuria picture	4
contains phenylalanine phenylketonuria	3
phenylketonuria symptom	2
Source: compiled by the editor from various references; see credits.

Phenylketonuria

Definition: Phenylketonuria