Abstract
Tyrosinemia type I is a genetic disorder characterized by accumulation in the blood and urine of the toxicmetabolite succinylacetone (SUAC), not detectable in healthy samples. In many countries, newborns are screened for tyrosinemia type I using tyrosine as a primary marker. Unfortunately, tyrosine accumulation may take longer to occur and it may be not obvious when specimens are collected, in the first few days of life, as for new born screening. In 2008, we reported changes to simultaneously measure acylcarnitines, amino acids, and SUAC duringexpanded newborn screening. We established the usefulness of this method after identifying a first asymptomatic new born affected by tyrosinemia type I. Now we report a second infant with positive SUAC screening result (14.1 mmol/L, n.v.
| Original language | English |
|---|---|
| Pages (from-to) | 107-109 |
| Number of pages | 3 |
| Journal | Journal of Inherited Metabolic Disease |
| Volume | 1 |
| DOIs | |
| Publication status | Published - Nov 1 2011 |
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Keywords
- Newborn screening
- Succynilacetone
- Tyrosinemiatype I
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
Cite this
Newborn screening for tyrosinemia type I : Further evidence that succinylacetone determination on blood spot is essential. / La Marca, Giancarlo; Malvagia, Sabrina; Pasquini, Elisabetta; Cavicchi, Catia; Morrone, Amelia; Ciani, Federica; Funghini, Silvia; Villanelli, Fabio; Zammarchi, Enrico; Guerrini, Renzo.
In: Journal of Inherited Metabolic Disease, Vol. 1, 01.11.2011, p. 107-109.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Newborn screening for tyrosinemia type I
T2 - Further evidence that succinylacetone determination on blood spot is essential
AU - La Marca, Giancarlo
AU - Malvagia, Sabrina
AU - Pasquini, Elisabetta
AU - Cavicchi, Catia
AU - Morrone, Amelia
AU - Ciani, Federica
AU - Funghini, Silvia
AU - Villanelli, Fabio
AU - Zammarchi, Enrico
AU - Guerrini, Renzo
PY - 2011/11/1
Y1 - 2011/11/1
N2 - Tyrosinemia type I is a genetic disorder characterized by accumulation in the blood and urine of the toxicmetabolite succinylacetone (SUAC), not detectable in healthy samples. In many countries, newborns are screened for tyrosinemia type I using tyrosine as a primary marker. Unfortunately, tyrosine accumulation may take longer to occur and it may be not obvious when specimens are collected, in the first few days of life, as for new born screening. In 2008, we reported changes to simultaneously measure acylcarnitines, amino acids, and SUAC duringexpanded newborn screening. We established the usefulness of this method after identifying a first asymptomatic new born affected by tyrosinemia type I. Now we report a second infant with positive SUAC screening result (14.1 mmol/L, n.v.
AB - Tyrosinemia type I is a genetic disorder characterized by accumulation in the blood and urine of the toxicmetabolite succinylacetone (SUAC), not detectable in healthy samples. In many countries, newborns are screened for tyrosinemia type I using tyrosine as a primary marker. Unfortunately, tyrosine accumulation may take longer to occur and it may be not obvious when specimens are collected, in the first few days of life, as for new born screening. In 2008, we reported changes to simultaneously measure acylcarnitines, amino acids, and SUAC duringexpanded newborn screening. We established the usefulness of this method after identifying a first asymptomatic new born affected by tyrosinemia type I. Now we report a second infant with positive SUAC screening result (14.1 mmol/L, n.v.
KW - Newborn screening
KW - Succynilacetone
KW - Tyrosinemiatype I
UR - http://www.scopus.com/inward/record.url?scp=84920916719&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84920916719&partnerID=8YFLogxK
U2 - 10.1007/8904_2011_24
DO - 10.1007/8904_2011_24
M3 - Article
AN - SCOPUS:84920916719
VL - 1
SP - 107
EP - 109
JO - Journal of Inherited Metabolic Disease
JF - Journal of Inherited Metabolic Disease
SN - 0141-8955
ER -