Clinical and Nutritional Evolution of 24 Patients with Glutaric Aciduria Type 1 in Follow-up at a Center Specialized in Inborn Errors of Metabolism in Chile

Abstract Introduction: Glutaric Aciduria Type 1 (GA-1) is produced by the enzymatic deficiency of glutaryl-CoA-dehydrogenase (GCDH), leading to the accumulation of glutaric acid (GA). 90% of patients without early treatment present acute encephalopathic crisis (AEC), followed by disabling neurological symptoms. The treatment consists of a low lysine (Lys) diet, protein substitute lys-free, tryptophan-reduced (PS) and L-carnitine. Objectives: Describe the clinical and nutritional evolution of a cohort of GA-1 patients at a national referral center in Chile. Methodology: Retrospective study of 24 patients diagnosed with GA-1 between 1998-2020 and referred to the Institute of Nutrition and Food Technology (INTA) of University of Chile. Results: Age at diagnosis was 19±27 months; 10/24 presented AEC and neurological sequelae. The cases without AEC (14/24) 8 presented neurological compromise: psychomotor development delay, abnormal movements and pyramidal syndrome. Nutritional evaluation: 12/24 were malnourished by deficiency, <6 years old group (12/24): 11 cases were found to have Lys and PS, ≥6 years old (12/24): 9/12 did not receive PS. All had normal free carnitine levels. Conclusion: GA-1 has variable symptoms with neurological involvement AEC or insidious start. Is essential to maintain a long-term follow-up and consider its inclusion in neonatal screening programs.

[What should the paediatrician know about hyperphenylalaninaemia?]. / ¿Qué debe saber el pediatra de las hiperfenilalaninemias?

Hyperphenylalaninaemias are defined by a blood phenylalanine over 2mg/dl. The main cause is due to a mutation in the gene that codes the phenylalanine hydroxylase that catalyses the reaction that converts phenylalanine into tyrosine. The hyperphenylalaninaemias are classified into benign or mild hyperphenylalaninaemias, or mild, moderate or classic phenylketonurias. Due to its delayed detection outside the neonatal period it causes severe mental retardation. Its detection along with congenital hypothyroidism has been part of the National Neonatal Screening Program since 1992 in Chile. This article aims to answer the most common questions asked by the paediatrician when faced with a patient with hyperphenylalaninaemias.

¿Qué debe saber el pediatra de las hiperfenilalaninemias? / What should the paediatrician know about hyperphenylalaninaemia?

Las hiperfenilalaninemias se definen por un nivel sanguíneo de fenilalanina sobre 2 mg/dl. La principal causa es una mutación en el gen que codifica la fenilalanina hidroxilasa que cataliza la reacción que transforma la fenilalanina en tirosina. Las hiperfenilalaninemias se clasifican en benignas o leves, y las fenilcetonurias en leves, moderadas y clásicas. Debido a que su detección más allá del periodo neonatal causa retardo mental severo, desde 1992 en Chile su detección, junto con la del hipotirodismo congénito, es parte del Programa Nacional de Pesquisa Neonatal. Este artículo pretende responder las preguntas más comunes que se puede hacer el pediatra cuando enfrenta a un paciente con hiperfenilalaninemias.

Hyperphenylalaninaemias are defined by a blood phenylalanine over 2 mg/dl. The main cause is due to a mutation in the gene that codes the phenylalanine hydroxylase that catalyses the reaction that converts phenylalanine into tyrosine. The hyperphenylalaninaemias are classified into benign or mild hyperphenylalaninaemias, or mild, moderate or classic phenylketonurias. Due to its delayed detection outside the neonatal period it causes severe mental retardation. Its detection along with congenital hypothyroidism has been part of the National Neonatal Screening Program since 1992 in Chile. This article aims to answer the most common questions asked by the paediatrician when faced with a patient with hyperphenylalaninaemias.

[Cerebrotendinous xanthomatosis: report of one case]. / Xantomatosis cerebrotendínea: Una causa de aumento de volumen bilateral del tendón de Aquiles. Caso clínico.

Cerebrotendinous xanthomatosis is an inherited autosomal recessive disease caused by a mutation in the gene for the sterol 27-hydroxylase enzyme, which determines the accumulation of plasmatic cholestanol in various tissues. The natural history of this disease is characterized by chronic diarrhea beginning in childhood, cataract in youth, tendinous xanthomas in adulthood and later progressive neurological dysfunction manifested as dementia, psychiatric disorders, cerebellar, pyramidal or extra pyramidal signs or seizures. We report a 39 year-old male with a history of diarrhea during childhood and bilateral cataracts requiring surgery at 20 years of age, who evolves later with psychiatric disorders and bilateral increased volume in Achules tendons. High levels of plasmatic cholestanol and magnetic resonance imaging confirmed the diagnosis of this disease.

Complicaciones neurológicas en pacientes adultos sometidos a trasplante hepático ortotópico: experiencia de un centro universitario / Neurological complications following a liver transplantation: experience from a Chilean center

Background: Orthotopic liver transplantation (OLT) is the treatment of choice for multiple acute and chronic end-stage liver diseases as well as for selected cases of liver malignancy and ¡iver-site metabolic disorders. Neurological impairment is a major source of morbidity and moñality following OLT. Aim: To describe the incidence and the type of neurological complications occurring in the post-operative period of OLT in patients transplanted in our hospital. Material and methods: Between March 1994 and August 2007, 76 adult patients underwent OLT. Data on incidence, time of onset, and outcome of central nervous system (CNS) complications have been obtained from our program data base and patient charts. Results: Twenty three patients (30.3 percent) had CNS complications following OLT. The leading complications were immunosuppressive drug-related neurological impairment in nine patients (39.1 percent), peripheral nerve damage in five patients (21.7 percent), central pontine myelinolysis in four patients (17.4 percent), cerebrovascular disease in three (13 percent) and CNS infection in three (13 percent). Most CNS events (90 percent) occurred in the first 2 weeks after OLT. Five patients with neurological complications died (22 percent). Conclusions: CNS complications occurred in almost one fifth of the population studied, and they had a poor outcome, as previously reported).

[Neurological complications following a liver transplantation: experience from a Chilean center]. / Complicaciones neurológicas en pacientes adultos sometidos a trasplante hepático ortotópico: experiencia de un centro universitario.

BACKGROUND: Orthotopic liver transplantation (OLT) is the treatment of choice for multiple acute and chronic end-stage liver diseases as well as for selected cases of liver malignancy and liver-site metabolic disorders. Neurological impairment is a major source of morbidity and mortality following OLT. AIM: To describe the incidence and the type of neurological complications occurring in the post-operative period of OLT in patients transplanted in our hospital. MATERIAL AND METHODS: Between March 1994 and August 2007, 76 adult patients underwent OLT. Data on incidence, time of onset, and outcome of central nervous system (CNS) complications have been obtained from our program data base and patient charts. RESULTS: Twenty three patients (30.3%) had CNS complications following OLT. The leading complications were immunosuppressive drug-related neurological impairment in nine patients (39.1%), peripheral nerve damage in five patients (21.7%), central pontine myelinolysis in four patients (17.4%), cerebrovascular disease in three (13%) and CNS infection in three (13%). Most CNS events (90%) occurred in the first 2 weeks after OLT. Five patients with neurological complications died (22%). CONCLUSIONS: CNS complications occurred in almost one fifth of the population studied, and they had a poor outcome, as previously reported).