Cystathioninuria, also called cystathionase deficiency, is an autosomal recessive metabolic disorder. It is characterized by an abnormal accumulation of plasma cystathionine leading to excess cystathionine in the urine. Hereditary cystathioninuria is associated with the reduced activity of the enzyme cystathionine gamma-lyase. It is considered a biochemical anomaly. This is because it associated with a wide range of diseases and its inconsistency. Cystathionase catalyzes cystathionine to cysteine and α-ketobutyrate. Cysteine is an essential amino acid and its conversion from cystathionine occurs in the trans-sulfuration pathway. The availability of cysteine is necessary for the synthesis of an important anti-oxidant, glutathione. Cystathionase has a co-enzyme, pyridoxal phosphate, which is the active form the vitamin B6. This means that vitamin B6 is essential for the function of cystathionase. Cystathioninuria can be broken down into two main categories. Primary cystathioninuria is caused by the recessive inherited deficiency of cystathionase enzyme. Secondary cystathioninuria is described by non-genetic conditions of excess cystathionine. Secondary cystathioninuria includes temporary excess cystathionine of premature infants, severe generalized liver damage, thyrotoxicosis, hepatoblastoma, or neuroblastoma. Cases of secondary cystathioninuria are not responsive to vitamin B6 administration. Types
Under primary cystathioninuria, the inherited mutation of CTH gene, there are two forms. There is vitamin B6 – unresponsive and vitamin B6 – responsive cystathioninuria. The vitamin B6 – unresponsive form is thought to be from a lack of the synthesis of cystathionase. This means that the mutation in CTH from this form of cystathioninuria, results in the absence of cystathionase.
In 1953 Dr Saxtorph, medical advisor to the Greenland department (part of the Danish government), wrote that the Greenlanders do not like outsiders to see or discuss these birthmarks; "they doubtless feel as a reminiscence of the time when they lived on a low cultural level".The presence or absence of the slate grey nevus was used by racial theorists such as Joseph Deniker (1852-1918), the French anthropologist.The Journal of Cutaneous Diseases Including Syphilis, Volume 23 contained several accounts of the slate grey nevus on children in the Americas:

Holm ("Ethnological Sketch. Communications on Greenland," X., Copenhagen, 1887) announced the presence of the spot in the east part of Greenland. Bartels ("The So-Called Mongolian Spots on Infants of Esquimaux," Ethnologic Review, 1903) received letters regarding it from East Greenland and also from Esquimaux of Alaska. In half-breed European-Esquimaux, Hansen says he has encountered it. Among Indians of North Vancouver, British Columbia, there are observations made by Baelz as well as by Tenkate (secondhand). In the Mayas of Central America, Starrs (Data on the Ethnography of Western Mexico, Part H., 1902) facts are corroborated by Herman (Aparecimiento de la Mancha Mongolica. Revista de Ethnologia, 1904). He cites A. F. Chamberlain (Pigmentary Spots, American Anthropologist, 1902,) and Starr (Sacral Spots of Mayan Indians, Science, New Series, xvii., 1903). In Central America, according to these authorities, the spot is called Uits, "pan," and it is an insult to speak of it. It disappears in the tenth month. It is bluish-reddish (in these Native people), and is remarkable by its small size.