Refimprove date September 2008 Infobox Disease Name Argininemia Image L arginine skeletal tall .png Caption Arginine DiseasesDB 29677 ICD10 ICD9 ICDO OMIM 207800 MedlinePlus eMedicineSubj ped eMedicineTopic 132 MeshID D020162 GeneReviewsID arg1 GeneReviewsName Arginase Deficiency Argininemia , also called arginase deficiency , ref OMIM 207800 ref is an autosomal recessive ref cite journal last1 Uchino first1 Takako last2 Snyderman first2 Selma E. last3 Lambert first3 Marie last4 Qureshi first4 Ijaz A. last5 Shapira first5 Stuart K. last6 Sansaricq first6 Claude last7 Smit first7 Leonard M. E. last8 Jakobs first8 Cornelis last9 Matsuda first9 Ichiro title Molecular basis of phenotypic variation in patients with argininemia journal Human Genetics volume 96 issue 3 pages 255 60 year 1995 pmid 7649538 doi 10.1007 BF00210403 ref urea cycle disorder where a deficiency of the enzyme arginase causes a build up of arginine and ammonia in the blood . Ammonia, which is formed when proteins are broken down in the body, is toxic if levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. Diagnosis Argininemia usually becomes evident by about the age of 3. It most often appears as stiffness, especially in the legs, caused by abnormal tensing of the muscles spasticity . Other symptoms may include slower than normal growth, developmental delay and eventual loss of developmental milestones, mental retardation , seizures , tremor, and difficulty with balance and coordination ataxia . Occasionally, high protein meals or stress caused by illness or periods without food fasting may cause ammonia to accumulate more quickly in the blood. This rapid increase ... individuals, signs and symptoms of argininemia may be less severe, and may not appear until later in life. Genetics Image autorecessive.svg thumb right Argininemia has an autosomal recessive pattern of inheritance . Mutations in the ARG1 gene cause argininemia. Argininemia belongs to a class of genetic ... more details
Encyclopedia
top
