Newborn screening for homocystinuria

Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian Peninsula.

Homocystinuria due to cystathionine β-synthase deficiency or "classical homocystinuria" is a rare autosomal recessive condition resulting in altered sulfur metabolism with elevated methionine and homocysteine in plasma and homocystine in urine. This condition is characterized by a high clinical heterogeneity, which contributes to late clinical diagnosis, usually only made after irreversible dam...

Asymptomatic maternal combined homocystinuria and methylmalonic aciduria (cblC) detected through low carnitine levels on newborn screening.

A symptom-free woman gave birth to a girl with a low carnitine level on newborn screening. The baby was unaffected, but the mother had biochemical abnormalities and mutations characteristic of the cblC defect of vitamin B(12) metabolism (late-onset form). This patient with cblC was detected through her infant's newborn screening.

A Universal Newborn Hearing Screening in Iran

Objectives: In September 2002 University of Social Welfare & Rehabilitation Sciences established a pilot universal newborn hearing screening program in two crowded maternity hospital in Tehran. Our objective was to assess the feasibility of implementing universal newborn hearing screening in IRAN. Methods: Between September 2002 and March 2004 a total of 7718 newborns were screened for heari...

Present Newborn Screening for Phenylketonuria

Newborn Screening for Pompe Disease.

Started in 1963 by Robert Guthrie, newborn screening (NBS) is considered to be one of the great public health achievements. Its original goal was to screen newborns for conditions that could benefit from presymptomatic treatment, thereby reducing associated morbidity and mortality. With advances in technology, the number of disorders included in NBS programs increased. Pompe disease is a good c...