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Information about Ochronosis


Classification & external resources
ICD-10E70.2
ICD-9270.2
DiseasesDB409
eMedicinederm/476 
MeSHD009794
Ochronosis is a dermatological disorder that results in the adverse pigmentation of cartilage from a long term buildup of phenylalanine or tyrosine.

In this disorder, a pigment substance resulting from incomplete catabolism of tyrosine and phenylalanine is deposited, over the years, in cartilage, the eye, and to a lesser degree in the skin.

Symptoms

Pigmented cartilage may appear blue due to scattering phenomenon, and to a lesser degree this may be true for skin with dermal deposition of this pigment. The skin of the axilla is very likely to be pigmented due to deposits of homogentisic acid in sudoriferous glands in these areas. The clinical features of this metabolic disorder are dark urine, pigmentation of the skin and arthritis. Particularly helpful is the almost constant presence of a patch of pigmentation (gray to brown in color) in the sclera, between the margin of the cornea and the outer or inner canthus. Because of the bluish color produced by the deep pigmentation, this condition may be confused with argyria.

See also

References

 •  • [ e]
Metabolic pathology (, )
Amino acidAromatic (Phenylketonuria, Alkaptonuria, Ochronosis, Tyrosinemia, Albinism, Histidinemia) - Branched chain (Maple syrup urine disease, Propionic acidemia, Methylmalonic acidemia, Isovaleric acidemia, 3-Methylcrotonyl-CoA carboxylase deficiency) - Transport (Cystinuria, Cystinosis, Hartnup disease, Fanconi syndrome) - Sulfur (Homocystinuria, Cystathioninuria) - Urea cycle disorder (N-Acetylglutamate synthase deficiency, Carbamoyl phosphate synthetase I deficiency, Ornithine transcarbamylase deficiency, Citrullinemia, Argininosuccinic aciduria, Hyperammonemia) - Glutaric acidemia type 1 - Sarcosinemia
CarbohydrateLactose intolerance - Glycogen storage disease (type I, type II, type III, type IV, type V, type VI, type VII) - fructose metabolism (Fructose intolerance, Fructose bisphosphatase deficiency, Essential fructosuria) - galactose metabolism (Galactosemia, Galactose-1-phosphate uridylyltransferase galactosemia, Galactokinase deficiency) - other intestinal carbohydrate absorption (Glucose-galactose malabsorption, Sucrose intolerance) - pyruvate metabolism and gluconeogenesis (PCD, PDHA) - Pentosuria - Renal glycosuria
Lipid storageSphingolipidoses/Gangliosidoses: GM2 gangliosidoses (Sandhoff disease, Tay-Sachs disease) - GM1 gangliosidoses - Mucolipidosis type IV - Gaucher's disease - Niemann-Pick disease - Farber disease - Fabry's disease - Metachromatic leukodystrophy - Krabbe disease
Neuronal ceroid lipofuscinosis (Batten disease) - Cerebrotendineous xanthomatosis - Cholesteryl ester storage disease (Wolman disease)
Other lipidLipoprotein/lipidemias: Hyperlipidemia - Hypercholesterolemia - Familial hypercholesterolemia - Xanthoma - Combined hyperlipidemia - Lecithin cholesterol acyltransferase deficiency - Tangier disease - Abetalipoproteinemia
Fatty acid: Adrenoleukodystrophy - Carnitine (Primary, I, II)
MineralCu Wilson's disease/Menkes disease - Fe Haemochromatosis - Zn Acrodermatitis enteropathica - PO43− Hypophosphatemia/Hypophosphatasia - Mg2+ Hypermagnesemia/Hypomagnesemia - Ca2+ Hypercalcaemia/Hypocalcaemia/Disorders of calcium metabolism
Fluid, electrolyte
and acid-base balance		Electrolyte disturbance - Na+ Hypernatremia/Hyponatremia - Acidosis (Metabolic, Respiratory, Lactic) - Alkalosis (Metabolic, Respiratory) - Mixed disorder of acid-base balance - H2O Dehydration/Hypervolemia - K+ Hypokalemia/Hyperkalemia - Cl− Hyperchloremia/Hypochloremia
Purine and pyrimidineHyperuricemia - Lesch-Nyhan syndrome - Xanthinuria
PorphyrinAcute intermittent, Gunther's, Cutanea tarda, Erythropoietic, Hepatoerythropoietic, Hereditary copro-, Variegate
BilirubinUnconjugated (Gilbert's syndrome, Crigler-Najjar syndrome) - Conjugated (Dubin-Johnson syndrome, Rotor syndrome)
GlycosaminoglycanMucopolysaccharidosis - 1:Hurler/Hunter - 3:Sanfilippo - 4:Morquio - 6:Maroteaux-Lamy - 7:Sly
GlycoproteinMucolipidosis - I-cell disease - Pseudo-Hurler polydystrophy - Aspartylglucosaminuria - Fucosidosis - Alpha-mannosidosis - Sialidosis
OtherAlpha 1-antitrypsin deficiency - Cystic fibrosis - Amyloidosis (Familial Mediterranean fever) - Acatalasia
For other uses of "ICD", see ICD (disambiguation).


The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD
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List of ICD-10 codes. The version for 2007 is available online at [1]

Chapter Blocks Title
I Certain infectious and parasitic diseases
II Neoplasms
III Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
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For other uses of "ICD", see ICD (disambiguation).


The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD
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The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. These codes are in the public domain.

See also


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The Diseases Database is a free website that provides information about the relationships between medical conditions, symptoms, and medications.

It directly integrates the Unified Medical Language System.

External links

  • Diseases Database

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eMedicine is an online clinical medical knowledge base that was founded in 1996 by Scott Plantz and Richard Lavely, two medical doctors. It was sold to WebMD in January 2006.
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Medical Subject Headings (MeSH) is a huge controlled vocabulary (or metadata system) for the purpose of indexing journal articles and books in the life sciences. Created and updated by the United States National Library of Medicine (NLM), it is used by the MEDLINE/PubMed
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Phe redirects here. For the BitTorrent feature, see PHE. For the constellation, see Phoenix (constellation).


Phenylalanine (abbreviated as Phe or F)[1] is an α-amino acid with the formula HO2
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Tyrosine (abbreviated as Tyr or Y)[1] or 4-hydroxyphenylalanine, is one of the 20 amino acids that are used by cells to synthesize proteins. It is a non-essential amino acid and it is found in large quantities in casein.
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For the related metabolic process, see anabolism.


Catabolism is the set of metabolic pathways that break down molecules into smaller units and release energy.
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Tyrosine (abbreviated as Tyr or Y)[1] or 4-hydroxyphenylalanine, is one of the 20 amino acids that are used by cells to synthesize proteins. It is a non-essential amino acid and it is found in large quantities in casein.
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Phe redirects here. For the BitTorrent feature, see PHE. For the constellation, see Phoenix (constellation).


Phenylalanine (abbreviated as Phe or F)[1] is an α-amino acid with the formula HO2
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Cartilage is a type of dense connective tissue. It is composed of collagen fibers and/or elastin fibers, and can supply smooth surfaces for the movement of articulating bones.
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For the bowling style in cricket, see .


The underarm (or armpit, axilla, or oxter) is the area on the human body directly under the joint where the arm connects to the shoulder.
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Homogentisic acid is the common name for 2,5-dihydroxyphenylacetic acid.

It is less commonly known as "Melanic acid", the name chosen by William Prout.

Pathology


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In humans, there are four kinds of sudoriferous or sweat glands which differ greatly in both the composition of the sweat and its purpose.
  • eccrine glands - sweat (normal sweat used in temperature control)
  • apocrine glands - sweat,fats,proteins (slightly more viscous sweat)

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MeSH D001168 Arthritis (from Greek arthro-, joint + -itis, inflammation; plural: arthritides) is a group of conditions where there is damage caused to the joints of the body. Arthritis is the leading cause of disability in people over the age of 55.
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The sclera is the opaque (usually white), fibrous, protective layer of the eye containing collagen and elastic fibers.[1] In children, it is thinner and shows some of the underlying pigment, appearing slightly blue.
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The cornea is the transparent front part of the eye that covers the iris, pupil, and anterior chamber, providing most of an eye's optical power.[1] Together with the lens, the cornea refracts light, and as a result helps the eye to focus, accounting for approximately
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Canthus can refer to:
  • Canthus (anatomy), a part of the eye
  • Canthus (mythology), one of the Argonauts
  • Canthus (crater), a crater (see List of geological features on Saturn's smaller moons)

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MeSH D001129 Argyria (ISV from Greek: αργύρος argyros silver + -ia) is an extremely rare condition caused by the ingestion of elemental silver, silver dust or silver compounds.
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MeSH D000474 Alkaptonuria (black urine disease, alcaptonuria or ochronosis) is a rare inherited genetic disorder of tyrosine metabolism. This is an autosomal recessive trait that is caused by a defect in the enzyme homogentisic acid oxidase (EC 1.13.11.
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MeSH D020176 Tyrosinemia (or "Tyrosinaemia") is an error of metabolism, usually inborn, in which the body can not effectively break down the amino acid tyrosine.

Tyrosinemia is inherited in an autosomal recessive pattern.
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Phenylketonuria
Classification & external resources

Phenylalanine
ICD-10 E 70.0
ICD-9 270.1

OMIM 261600
DiseasesDB 9987
MedlinePlus 001166
eMedicine ped/1787   derm/712
MeSH D010661 Phenylketonuria (PKU
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A metabolic disorder is a medical disorder which affects the production of energy within individual human (or animal) cells. Most metabolic disorders are genetic, though a few are "acquired" as a result of diet, toxins, infections, etc.
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Pathologist redirects here. For other uses of the terms pathology or pathological, see pathology (disambiguation).


Pathology is the study and diagnosis of disease through examination of organs, tissues, cells and bodily fluids.
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amino acid is a molecule that contains both amine and carboxyl functional groups. In biochemistry, this term refers to alpha-amino acids with the general formula H2NCHRCOOH, where R is an organic substituent.
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Aromatic amino acids are amino acids which include an aromatic ring.

Examples include:
  • phenylalanine, tryptophan, and tyrosine
  • thyroxine

See also

  • Aromatic L-amino acid decarboxylase

External links

  • MeSH

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Phenylketonuria
Classification & external resources

Phenylalanine
ICD-10 E 70.0
ICD-9 270.1

OMIM 261600
DiseasesDB 9987
MedlinePlus 001166
eMedicine ped/1787   derm/712
MeSH D010661 Phenylketonuria (PKU
..... Click the link for more information.
MeSH D000474 Alkaptonuria (black urine disease, alcaptonuria or ochronosis) is a rare inherited genetic disorder of tyrosine metabolism. This is an autosomal recessive trait that is caused by a defect in the enzyme homogentisic acid oxidase (EC 1.13.11.
..... Click the link for more information.


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