Beneficial Effect of N-Carbamylglutamate in a Neonatal Form of Multiple Acyl-CoA Dehydrogenase Deficiency.

Background. Multiple acyl-CoA dehydrogenase deficiency is an autosomal recessive disorder of the amino acid metabolism and fatty acid oxidation due to the deficiency of the electron transfer protein or electron transfer protein ubiquinone oxidoreductase. The clinical picture ranges from a severe neonatal lethal presentation to late myopathic forms responsive to riboflavin. Up to now, there is no effective treatment for the neonatal form, which exhibits severe metabolic acidosis, hyperammonemia, hypoketotic hypoglycemia, and rhabdomyolysis. We present the case of a child who has had a good long-term outcome after a typical neonatal onset, with a dramatic drop in ammonia levels during the initial metabolic decompensation crisis and adequate control even during intercurrent diseases thereafter with N-carbamylglutamate treatment.

Hipoglucemia secundaria a hiperinsulinismo en un paciente con síndrome de QT largo congénito / Hipoglycemia secondary to hyperinsulinism in a patient with congenital long QT syndrome

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Desarrollo psicomotor en pacientes con cardiopatía congénita grave / Psychomotor development in patients with severe congenital heart disease

Objetivo. Analizar los hitos motores alcanzados en los dos primeros años de vida en pacientes con cardiopatía congénita grave. Pacientes y métodos. De 89 pacientes con cardiopatía congénita grave, 19 fueron excluidos por antecedentes de prematuridad o cromosomopatía, cuatro por antecedente de ictus isquémico y dos por ausencia de historia clínica. Se obtuvieron resultados del test de Denver (TD) a los 2, 6, 12, 15 y 18 meses, y resultados en los campos motor, del lenguaje y de interacción social. Resultados. El 59,4% fueron varones, y el 40,6%, mujeres. La edad media de los pacientes sometidos a oxigenación con membrana extracorpórea con TD patológico a los 18 meses fue de 3 meses, frente a 11,88 meses de los que presentaban un TD normal. El TD a los 2 meses resultó normal en el 98,4% de los pacientes, en el 87,5% a los 6 y 12 meses, en el 81,3% a los 15 meses, y en el 85% a los 18 meses. Dos de los pacientes con alteración en el neurodesarrollo normalizaron el TD antes de los 24 meses. El campo del neurodesarrollo más afectado fue el del lenguaje (15,6%), seguido del motor (10,9%) y de la interacción social (8%). Conclusiones. El retraso en el desarrollo psicomotor, especialmente en el área del lenguaje, es más frecuente en pacientes con cardiopatías congénitas graves, y la presencia de cianosis y la necesidad de circulación con membrana extracorpórea son las variables que más se asocian con este tipo de patología

Aim. Retrospective analysis of the neurodevelopment in the first two years of life in patients with severe congenital heart disease. Patients and methods. Out of 89 patients with severe congenital heart disease 19 were excluded due to a history of prematurity and/or chromosomopathy, four due to a history of ischemic stroke and two due to lack of medical history. Denver Test (DT) results at 2, 6, 12, 15 and 18 months, and results in motor, language and social interaction fields were achieved. Results. 59.4% were male and 40.6% female. The mean age of patients undergoing extracorporeal membrane oxygenation with pathological DT at 18 months was 3 months, compared to 11.88 months in those with normal DT. DT at 2 months was normal in 98.4% of patients, 87.5% at 6 and 12 months, 81.3% at 15 months and 85% at 18 months. Two patients with abnormal neurodevelopment normalized the DT before 24 months. The field of neurodevelopment most affected was language (15.6%), followed by motor (10.9%) and social interaction (8%). Conclusions. Psychomotor development delay, especially in the area of language, is more frequent in patients with severe congenital heart disease. The presence of cyanosis and the need for extracorporeal membrane oxygenation were the variables that are most associated with this type of pathology

Trimetilaminuria primaria y transitoria: estudio de 2 casos / Primary and transitory trimethylaminuria: A report of 2 cases

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Evaluación neuropsicológica en niños y adolescentes con fenilcetonuria e hiperfenilalaninemia y su relación con los niveles de fenilalanina plasmática / Neuropsychological assessment among children and adolescents with phenylketonuria and hyperphenylalaninemia and its relationship with plasma phenylalanine levels

Aunque, con tratamiento precoz, los pacientes con fenilcetonuria pueden presentar niveles de inteligencia normales, es importante optimizar el control dietético para mantener niveles de fenilalanina adecuados y poder desarrollar su potencial intelectual sin alteraciones en sus tareas diarias por déficits en las funciones ejecutivas. Se presenta una serie de 26 pacientes, diagnosticados y tratados precozmente, a quienes se realizó una evaluación psicométrica junto con determinaciones de fenilalanina a lo largo de su vida y en el momento de realización de los tests. Se observa una tendencia a la relación inversa entre el cociente intelectual y la fenilalanina concurrente, la mediana de fenilalanina y el cociente fenilalanina/tirosina, así como una tendencia a la relación negativa entre las funciones ejecutivas y los valores de fenilalanina concurrentes y durante la vida.

Although with early treatment phenylketonuria patients may have average intelligence levels, it is important to optimize the nutritional management to maintain adequate phenylalanine levels, so that patients can develop their intellectual potential free of abnormalities in their daily activities due to deficits of cognitive executive functions. This study presents a series of 26 patients, diagnosed and treated early, who underwent a psychometric evaluation together with phenylalanine determinations along their lives, and at the time of doing the tests. A trend is observed towards a reverse relationship between IQ and concurrent phenylalanine concentration, phenylalanine median and phenylalanine/tyrosine ratio. Likewise, a trend towards a negative relationship is observed between executive functions and concurrent phenylalanine values along patients' lives.

Neuropsychological assessment among children and adolescents with phenylketonuria and hyperphenylalaninemia and its relationship with plasma phenylalanine levels. / Evaluación neuropsicológica en niños y adolescentes con fenilcetonuria e hiperfenilalaninemia y su relación con los niveles de fenilalanina plasmática.

Although with early treatment phenylketonuria patients may have average intelligence levels, it is important to optimize the nutritional management to maintain adequate phenylalanine levels, so that patients can develop their intellectal potential free of abnormalities in their daily activities due to deficits of cognitive executive functions. This study presents a series of 26 patients, diagnosed and treated early, who underwent a psychometric evaluation together with phenylalanine determinations along their lives, and at the time of doing the tests. A trend is observed towards a reverse relationship between IQ and concurrent phenylalanine concentration, phenylalanine median and phenylalanine/tyrosine ratio. Likewise, a trend towards a negative relationship is observed between executive functions and concurrent phenylalanine values along patients' lives.

Aunque, con tratamiento precoz, los pacientes con fenilcetonuria pueden presentar niveles de inteligencia normales, es importante optimizar el control dietético para mantener niveles de fenilalanina adecuados y poder desarrollar su potencial intelectual sin alteraciones en sus tareas diarias por déficits en las funciones ejecutivas. Se presenta una serie de 26 pacientes, diagnosticados y tratados precozmente, a quienes se realizó una evaluación psicométrica junto con determinaciones de fenilalanina a lo largo de su vida y en el momento de realización de los tests. Se observa una tendencia a la relación inversa entre el cociente intelectual y la fenilalanina concurrente, la mediana de fenilalanina y el cociente fenilalanina/tirosina, así como una tendencia a la relación negativa entre las funciones ejecutivas y los valores de fenilalanina concurrentes y durante la vida.

Clinical manifestations in female carriers of mucopolysaccharidosis type II: a Spanish cross-sectional study.

BACKGROUND: Mucopolysaccharidosis type II (MPS II) is an inherited X-linked disease associated with a deficiency in the enzyme iduronate 2-sulfatase due to iduronate 2-sulfatase gene (IDS) mutations. Recent studies in MPS II carriers did not find clinical involvement, but these were mainly performed by anamnesis and patients' self-reported description of signs and symptoms. So although it is rare in heterozygous carriers, investigations in other types of inherited X-linked disorders suggest that some clinical manifestations may be a possibility. The aim of this study was to evaluate the clinical pattern in female carriers of MPS II and to determine whether clinical symptoms were associated with the X-chromosome inactivation (XCI) pattern and age. METHODS: Female carriers of MPS II were genetically identified by molecular analysis of IDS. The clinical evaluation protocol included pedigree analysis, a comprehensive anamnesis, complete physical examination, ophthalmological evaluation, brain-evoked auditory response, electrocardiogram, echocardiogram, pulmonary function tests, abdominal sonogram, skeletal survey, neurophysiological studies, blood cell counts and biochemistry, urine glycosaminoglycan (GAGs) quantification, karyotype and pattern of XCI. RESULTS: Ten women were included in the study. The mean age of the participants was 40.2 ± 13.1 years. Six carriers presented a skewed XCI pattern, 3 of whom (aged 38, 42 and 52 years) had increased levels of GAGs in the urine and showed typical MPS II clinical manifestations, such as skeletal anomalies, liver abnormalities, carpal tunnel syndrome, recurrent ear infection, hypoacusia and more frequent severe odontological problems without coarse facial features. CONCLUSIONS: This is the first study performing a comprehensive evaluation of heterozygous MPS II carriers. Our results provide evidence of possible progressive, age-dependent, mild clinical manifestations in MPS II female carriers with a skewed XCI pattern, most likely affecting the normal allele. Further comparative studies with systematized clinical examinations in larger age-stratified populations of MPS II female carriers are required.