Mitochondrial fatty acid β-oxidation disorders (FAOD) are main targets for newborn screening (NBS) programs, which are excellent data sources for accurate estimations of disease birth prevalence. Epidemiological data is of key importance for the understanding of the natural history of the disorders as well as to define more effective public health strategies. In order to estimate FAOD birth prevalence in Iberia, the authors collected data from six NBS programs from Portugal and Spain, encompassing the screening of more than 1.6 million newborns by tandem mass spectrometry (MS/MS), and compared it with available data from other populations. The participating NBS programs are responsible for the screening of about 46% of all Iberian newborns. Data reveals that Iberia has one of the highest FAOD prevalence in Europe (1:7,914) and that Portugal has the highest birth prevalence of FAOD reported so far (1:6,351), strongly influenced by the high prevalence of medium-chain acyl-CoA dehydrogenase deficiency (MCADD; 1:8,380), one of the highest ever reported. This is justified by the fact that more than 90% of Portuguese MCADD patients are of Gypsy origin, a community characterized by a high degree of consanguinity. From the comparative analysis of various populations with comparable data other differences emerge, which points to the existence of significant variations in FAOD prevalences among different populations, but without any clear European variation pattern. Considering that FAOD are one of the justifications for MS/MS NBS, the now estimated birth prevalences stress the need to screen all Iberian newborns for this group of inherited metabolic disorders.

10.1007/8904_2014_324

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Outcome of three cases of untreated maternal glutaric aciduria type I

European Journal of Pediatrics (2007)

Paula Garcia Esmeralda Martins Luísa Diogo Hugo Rocha Ana Marcão

Daughter

Glutaric acid

10.1007/s00431-007-0556-2

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Adult-onset form in VLCAD deficiency: seven cases

C Salazar De Sousa Ana Marcão Célia Nogueira Helena Fonseca Hugo Rocha

1Unidade de Rastreio Neonatal, Metabolismo e Genetica, Departamento de Genetica Humana. Instituto Nacional de Saude Doutor Ricardo Jorge 2 Servico de pediatria, Centro Hospitalar Povoa Varzim 3 UCIEP, Hospitalar Professor Doutor Fernando Fonseca 4 Servico de Neurologia, Centro Hospitalar de Lisboa Norte 5 Servico de Medicina Interna, Centro Hospitalar do Porto 6 Servico de Neurologia, Hospital Sao Marcos

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Diagnóstico pré-natal: presente e futuro

Olga Amaral Hugo Rocha Bárbara Marques Cristina Ferreira Ana Rita C. Duarte

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Gestational Exercise Increases Male Offspring’s Maximal Workload Capacity Early in Life

International Journal of Molecular Sciences (2022)

Jorge Beleza Jelena Stevanović Pedro Coxito Hugo Rocha Paulo Cezar Rocha dos Santos

Mothers' antenatal strategies to improve the intrauterine environment can positively decrease pregnancy-derived intercurrences. By challenging the mother-fetus unit, gestational exercise (GE) favorably modulates deleterious stimuli, such as high-fat, high-sucrose (HFHS) diet-induced adverse consequences for offspring. We aimed to analyze whether GE alters maternal HFHS-consumption effects on male offspring's maximal workload performance (MWP) and in some skeletal muscle (the soleus-SOL and the tibialis anterior-TA) biomarkers associated with mitochondrial biogenesis and oxidative fitness. Infant male Sprague-Dawley rats were divided into experimental groups according to mothers' dietary and/or exercise conditions: offspring of sedentary control diet-fed or HFHS-fed mothers (C-S or HFHS-S, respectively) and of exercised HFHS-fed mothers (HFHS-E). Although maternal HFHS did not significantly alter MWP, offspring from GE dams exhibited increased MWP. Lower SOL AMPk levels in HFHS-S were reverted by GE. SOL PGC-1α, OXPHOS C-I and C-IV subunits remained unaltered by maternal diet, although increased in HFHS-E offspring. Additionally, GE prevented maternal diet-related SOL miR-378a overexpression, while upregulated miR-34a expression. Decreased TA C-IV subunit expression in HFHS-S was reverted in HFHS-E, concomitantly with the downregulation of miR-338. In conclusion, GE in HFHS-fed dams increases the offspring's MWP, which seems to be associated with the intrauterine modulation of SM mitochondrial density and functional markers.

10.3390/ijms23073916

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