[Beginnings, evolution and current situation of the Newborn Screening Programs in Spain.].

Newborn Screening Programs (NSP) in Spain were born in the city of Granada in 1968. Till the 1980s, they were developed around the so-called "National Plan for Preventing Subnormality", covering up to 30% of the Spanish newborns. From 1982, when the health system management was transferred to the different autonomous regions, the NSP began to expand, and the bases to transform them into an organized and multidisciplinary activity, integrated and coordinated from the National Health System were settled.

[False positive on neonatal screening: C5-carnitin increase in newborns due to pre-labour treatment with cefditoren pivoxil].

The increase in C5-carnitin (C5) quantified by tandem mass spectrometry allows for early detection of isovaleric acidemia (IVA) in newborns. The administration of pro- drugs like cefditoren pivoxil (CFP) composed by pivalic acid esters also causes increases of C5 in blood. This work shows the experience of the Laboratorio de Cribado Neonatal of the Comunidad de Madrid in the newborn screening for IVA.

[Hereditary hyperferritinemia cataracts syndrome in a Spanish family caused by the A40G mutation (Paris) in the L-ferritin (FTL) gene associated with the mutation H63D in the HFE gene].

Background And Objective: The cataract-associated increase in serum ferritin without any other data of iron overload is known since 1995 as hyperferritinemia-cataract syndrome (HHCS). More than 100 families have been described all around the world with this syndrome and more than 30 mutations in the L-ferritin (FTL) gene. We introduce a family from Madrid (Spain), with the disease phenotype and a genotype with the A40G mutation, named Paris, and besides carrier of the H63D mutation of the HFE gene.