homocarnosinosis

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 accumulation of homocarnosine in cerebrospinal fluid and the brain but not in plasma or urine, accompanied by carnosinuria. Progressive spastic paraplegia, mental deterioration, and retinal pigmentation may be sequelae. The disorder is due to deficiency of the serum isozyme of X-His dipeptidase, but its relationship to serum carnosinase deficiency (q.v.) has not been elucidated.

Игры ⚽ Поможем написать курсовую

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… … Diccionario médico
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

Academic Dictionaries and Encyclopedias