homocarnosinosis

homocarnosinosis
homocarnosinosis
aumento de homocarnosina en el LCR y el cerebro. Su cuadro clínico se caracteriza por displejía espástica progresiva, retraso mental y pigmentación retiniana, con aparición de los síntomas entre los 6 y los 29 años.

Diccionario ilustrado de Términos Médicos.. . 2010.


Diccionario médico. 2013.

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  • homocarnosinosis — An inborn error in metabolism in which homocarnosine levels are elevated, particularly in the cerebral spinal fluid. * * * ho·mo·car·no·sin·o·sis (ho″mo kahr″no sĭ noґsis) an autosomal recessive aminoacidopathy characterized by… …   Medical dictionary

  • Carnosinemia — Infobox Disease Name = PAGENAME Caption = Carnosine DiseasesDB = 29672 ICD10 = ICD10|E|70|8|e|70 ICD9 = ICD9|270.5 ICDO = OMIM = 212200 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = Carnosinemia, also called carnosinase… …   Wikipedia

  • List of diseases (H) — A list of diseases in the English wikipedia.DiseasesTOC HaHag Ham* Hageman factor deficiency * Hagemoser Weinstein Bresnick syndrome * Hailey Hailey disease * Hair defect with photosensitivity and mental retardation * Hairy cell leukemia * Hairy… …   Wikipedia

  • CNDP1 — Carnosine dipeptidase 1 (metallopeptidase M20 family), also known as CNDP1, is a human gene.cite web | title = Entrez Gene: CNDP1 carnosine dipeptidase 1 (metallopeptidase M20 family)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene… …   Wikipedia

  • serum carnosinase deficiency — an autosomal recessive aminoacidopathy of carnosine metabolism, due to deficiency of the serum isozyme of X His dipeptidase; it is characterized by urinary excretion of carnosine and accumulation of homocarnosine in the cerebrospinal fluid and… …   Medical dictionary

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