Argininemia is an autosomal recessive urea cycle disorder where a deficiency of the enzyme arginase causes a buildup 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. Signs and symptoms
The presentation of argininemia, in those that are affected, is consistent with the following:

Genetics
Mutations in the ARG1 gene cause argininemia, which belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occurs in liver cells (hepatocytes). This cycle processes excess nitrogen, generated when protein is used by the body, making urea that is excreted via the kidneys.The ARG1 gene provides instructions for making an enzyme called arginase, this enzyme controls the last steps of the urea cycle, which produces urea by extracting nitrogen from arginine. In people with arginase deficiency, arginase is missing, and arginine is not broken down properly. consequently, urea cannot be produced and excess nitrogen accumulates in the blood in the form of ammonia. Ammonia and arginine are thought to cause neurological problems and other symptoms of arginase deficiency.This condition is an autosomal recessive disorder, which means the defective gene is located on an autosome, and two copies of the defective gene are required to inherit the disorder. Both parents of an individual with an autosomal recessive disorder are carriers of one copy of the gene, but usually do not have the disorder.
64–70% of people with this condition are male, and most are elderly, with a median age of 65. History
The first known case of acute erythroid leukemia was described in 1912 by M. Copelli under the name erythromatosis. In 1917, Italian hematologist Giovanni Di Guglielmo (1886–1962), expanded on the description, coining the name "eritroleucemia" (Italian for erythroleukemia). Di Guglielmo was the first to recognize the leukemic nature of the condition, and it is sometimes referred to as Di Guglielmos syndrome in recognition of his work. Ernst Neumark was widely credited for introducing Di Guglielmos syndrome to English pathology.Chris Squire, bassist from the progressive rock group Yes, died from complications related to acute erythroid leukemia on June 27, 2015. References
External links

Kowal-Vern A, Mazzella FM, Cotelingam JD, Shrit MA, Rector JT, Schumacher HR (2000). "Diagnosis and characterization of acute erythroleukemia subsets by determining the percentages of myeloblasts and proerythroblasts in 69 cases". Am. J. Hematol. 65 (1): 5–13. doi:10.1002/1096-8652(200009)65:1<5::AID-AJH2>3.0.CO;2-U. PMID 10936857. Histology at University of Virginia
Overview at Marist College
Images at Nagoya University