Sarcosinemia

Sarcosinemia
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Sarcosinemia".

content


Sarcosinemia Classification and external resources
Sarcosine
ICD-10	E 72.5
ICD-9	270.8
OMIM	268900
DiseasesDB	29841

Sarcosinemia (SAR), also called Hypersarcosinemia and SARDH deficiency,¹ is a rare autosomal recessive² metabolic disorder characterized by an increased concentration of sarcosine in blood plasma and urine. It can result from an inborn error of sarcosine metabolism, or from severe folate deficiency related to the folate requirement for the conversion of sarcosine to glycine. It is thought to be a relatively benign condition.³

Sarcosinemia has an autosomal recessive pattern of inheritance.

References

^ Online 'Mendelian Inheritance in Man' (OMIM) 268900
^ Brunialti AL, Harding CO, Wolff J, Guénet JL (1996). "The mouse mutation sarcosinemia (sar) maps to chromosome 2 in a region homologous to human 9q33-q34". Genomics 36 (1): 182–4. doi:10.1006/geno.1996.0442. PMID 8812433.
^ Lee SY, Chan KY, Chan AY, Lai CK (2006). "A report of two families with sarcosinaemia in Hong Kong and revisiting the pathogenetic potential of hypersarcosinaemia" (Free full text). Annals of the Academy of Medicine, Singapore 35 (8): 582–4. ISSN 0304-4602. PMID 17006587, http://www.annals.edu.sg/pdf/35VolNo8Aug2006/V35N8p582.pdf.

External links

Sarcosinemia at NIH's Office of Rare Diseases

v • d • e

Inborn errors of amino acid metabolism (E70-72, 270)

Lysine/straight chain	Glutaric acidemia type 1 - type 2 - Hyperlysinemia - Pipecolic acidemia - Saccharopinuria

Leucine	Maple syrup urine disease - Isovaleric acidemia - 3-Methylcrotonyl-CoA carboxylase deficiency - 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

G→pyruvate

Glycine

Sarcosinemia - D-Glyceric acidemia - Glutathione synthetase deficiency

G→alpha-ketoglutarate

Glutamate/glutamine	SSADHD

Proline	Hyperprolinemia - Prolidase deficiency

Histidine	Carnosinemia - Histidinemia - Urocanic aciduria

G→succinyl-CoA


Methionine	Hypermethioninemia - Homocystinuria - Cystathioninuria

Valine	Maple syrup urine disease - Hypervalinemia - Isobutyryl-CoA dehydrogenase deficiency

Isoleucine	Maple syrup urine disease - Beta-ketothiolase deficiency - 2-Methylbutyryl-CoA dehydrogenase deficiency

General BC/OA	Propionic acidemia - Methylmalonic acidemia

G→fumarate


Phenylalanine/tyrosine	Phenylketonuria: Tetrahydrobiopterin deficiency - 6-Pyruvoyltetrahydropterin synthase deficiency Tyrosinemia: Type II tyrosinemia - Type III tyrosinemia/Hawkinsinuria - Alkaptonuria/Ochronosis - Type I tyrosinemia

G→oxaloacetate


Urea cycle/Hyperammonemia (arginine, aspartate)	N-Acetylglutamate synthase deficiency - Carbamoyl phosphate synthetase I deficiency - Ornithine transcarbamylase deficiency/translocase deficiency - Citrullinemia - Argininosuccinic aciduria - Argininemia

Transport

Cystinuria - Hartnup disease - Oculocerebrorenal syndrome - Lysinuric protein intolerance - Inborn errors of renal tubular transport (Cystinosis, Fanconi syndrome)

Tyrosine→Melanin

Albinism: Ocular albinism (1) - Oculocutaneous albinism (Hermansky-Pudlak syndrome) - Waardenburg syndrome

Glycine→Creatine

GAMT deficiency

Other

Trimethylaminuria - 2-Hydroxyglutaric aciduria - Fumarase deficiency

see also Amino acid metabolism enzymes, Urea cycle enzymes, intermediates

This genetic disorder article is a stub. You can help Wikipedia by expanding it.

Your Ad Here

See also

References

External links