Introduction: Propionic acidemia is a metabolic disease produced by a deficiency of the enzyme propionylCoA carboxylase. It can lead to coma, with severe neurologic encephalopathy or present later in life with vomiting, hypotonia, and seizures. An early diagnosis with adequate treatment helps to prevent the sequelae. Among the described complications is optic neuropathy, although not commonly reported, it is very disabling. Objectives: To describe two patients with propionic acidemia and optic neuropathy. Patients and Methods: Patient 1: 16 years old, male, parents without consanguinity. He was diagnosed at 5 months of age because of hypotonia and seizures. Until the age of 9 years, he evolved satisfactorily; therefore, he stopped treatment. At 13 years, he presented bilateral optic neuropathy. Patient 2: 20 years, female, parents without consanguinity. She was diagnosed with PA at 11 months of age because of hypotonia and seizures. She evolved satisfactorily until the age of 9 years when she presented a metabolic decompensation followed by a bad metabolic control. At 18 years, she presented bilateral progressive optic neuropathy. Results: Both patients have psychometric scores with borderline IQ 84-75 (WISC-R) beside optic neuropathy. They were evaluated by an ophthalmologist and also by neuroimaging (MRI of optic pathway). Conclusions: Pathophysiology of optic neuropathy is not completely understood. There is evidence that the damage is due to an accumulation of neurotoxic compounds secondary to the metabolic block increasing the oxidative stress. We suggest an annual ophthalmologic evaluation in the longterm follow-up of organic acidurias with visual loss, in order to detect this disabling sequela at an earlier stage.
It has been shown that there is a decrease in the concentrations of 25 hydroxyvitamin D (25-OHD) and bone mineral density (BMD) in patients with phenylketonuria (PKU) in their follow-up. Our objective was to determine concentrations of 25-OHD in subjects with PKU and hyperphenylalaninemia (HPA). Transversal analytical study considered three groups: G1-PKU with neonatal diagnosis and formula intake without Phe; G2-HPA, without specific treatment and G3-C control group. Sixteen patients per group (aged 6-23) were included. Levels of 25-OHD, lumbar spine (L2-L4), femur and total BMD, intact parathormone (PTH) and vitamin D (VitD) and calcium intake were calculated. The Kruskal-Wallis statistical test was applied (p-value<0,05). Significant differences were detected in concentrations of 25-OHD between G1-PKU and G2-HPA (38.9 ng/mL; 28 ng/mL, respectively) (NV: >30 ng/mL). G1-PKU had a higher intake of VitD, with differences among groups. There were no significant differences among groups in relation to BMD and intact PTH. In conclusion, G1-PKU under treatment and with good adherence, does not present VitD deficiency and no BMD alterations are observed. In contrast, G2-HPA had a lower intake of VitD and decreased 25-OHD concentrations which could affect the bone architecture in the long term. Further studies on the G2-HPA are suggested.
La vitamina D (VD) es indispensable para el metabolismo del calcio y fósforo, su deficiencia puede causar raquitismo. En Chile se suplementa con 400 UI /diarias desde el primer mes hasta el año de vida. Objetivo: Describir las concentraciones plasmáticas de VD en lactantes sanos suplementados y secundariamente, evaluar la asociación del estatus de VD con estacionalidad y estado nutricional. Sujetos y Método: Estudio de corte transversal. Se evaluó a lactantes con lactancia materna exclusiva o mixta que acudían a controles pediátricos mensuales y recibían suplementación de VD a dosis de 400 UI diarias. A los 6 meses de edad se midió la concentración plasmática de VD, el peso y la talla. Posteriormente se clasificó el estado nutricional (peso/edad y peso/talla) según los referentes de la OMS. De acuerdo a la concentración plasmática de VD, se definió como normal ≥ 30 ng/ml, insuficiencia si esta fue entre 20 y 29 ng/ml y deficiencia < 20 ng/ml. Resultados: Se estudiaron 40 lactantes, 40% tuvieron concentraciones de VD insuficientes y 40% deficientes. En el modelo de regresión lineal múltiple, las variables que se asociaron, de modo significativo, con una menor concentración de VD fueron: el periodo del año invierno-primavera (p = 0,007) y el riesgo de desnutrición (p = 0,038). Conclusiones: La frecuencia de deficiencia e insuficiencia de VD es elevada en nuestra población suplementada, dicho déficit es mayor durante el invierno y la primavera y en sujetos con riesgo de desnutrición.
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