Causes of delay in referral of patients with phenylketonuria to a specialized reference centre in Mexico

Abstract

Objective To expose causes leading to the delayed arrival of phenylketonuria (PKU) patients at a governmental reference centre (RC), and to describe their clinical characteristics. Material and methods PKU files registered during the past 18 years at the National Institute of Pediatrics in Mexico City were evaluated. Patients were classified into two groups according to their age at arrival: Group I (early reference), patients arriving during the first month of life; and Group II (late reference), those who arrived after thirty days of age. Time and causes of delay were documented. Results Of 57 recorded files, 10 were classified in Group I and 47 in Group II. Causes leading to the late arrival of Group II patients were absence of routine newborn screening (NBS), PKU not included in the routine NBS, sampling after the recommended age, false negative result, results without interpretation and/or instructions to follow, delayed notification of results, poor medical criteria of attending physician, difficulties in obtaining confirmatory tests, and administrative failures. Conclusion The main cause of late referral of PKU patients was the absence of PKU testing. As a developing country, Mexico still faces challenges in the proper functioning and expansion of the NBS programme. Most PKU patients arrived at the RC late, presenting with varying degrees of the clinical spectrum. Incorporating PKU testing into the already established Mexican NBS system and adding quality indicators to guarantee proper operation in all NBS phases is necessary to achieve the goal of identifying, referring, diagnosing, and treating patients promptly.

Inborn Errors of Intermediary Metabolism in Critically Ill Mexican Newborns

“…Most children born in developing countries are not subject to mandatory neonatal screening for IEiM, making prompt and accurate diagnosis critical as soon as their clinical manifestations appear. 7 The Inborn Errors of Metabolism and Screening Laboratory of the National Institute of Pediatrics (INP) in Mexico City is a national reference center devoted to the diagnosis and management of aminoacidopathies, organic acidemias, and fatty acid oxidation disorders. 8 The objectives of the present study were to assess the prevalence of IEiM in newborns admitted to NICUs/EWs throughout Mexico, in whom a metabolic disorder was suspected and to describe their clinical characteristics and the outcomes of the first episode of metabolic decompensation.…”

Comparison of Fluorometric İmmunoassay and Tandem Mass Spectrometry Methods Used in the Diagnosis of Phenylalanine Metabolism Disorders in Turkish Children

“…Because delays in PKU can lead to serious mental problems, early diagnosis of the disease is extremely important (2,20). As a matter of fact, when the reasons for delay in NSPs are examined in the past, the most common reason is stated as "not having an effective NSP" (21). In our study, the median age at diagnosis was 2 months in the positive group and 4 months in the negative group.…”

Challenges of Implementation of the National Phenylketonuria Screening Program in Iran: A Qualitative Study

“…According to studies conducted by Morovatdar et al (31) in North Khorsan, Iran, Eshraghi et al (32) in Mazandaran, Iran, Vela et al (33) in Mexico, Takano and Stranieri (2009) in Brazil (34), and Ades et al (2001) in England (35), the average age of diagnosis of patients with PKU is 19 months, 20 months, 32 months, 12 days, and 14.5 days, respectively. In order to reduce this delay, training the parents of newborns after childbirth by hospital personnel on screening tests and rapid notification of positive cases to parents by health care teams seem to be necessary.…”