Screening for Life: Perspectives From Adult Metabolic Specialists on Newborn Screening for Inherited Metabolic Diseases.

The number of inherited metabolic diseases (IMDs) in newborn screening (NBS) programs has increased significantly in the past decades. For some of the IMDs included in NBS (e.g.

[Assessment of internship sites in Internal Medicine and Clinical Immunology, 7 years after the Residency Training Program Reform: Findings from a 2024 year-end survey in France].

Objective: To compile a list of approved training sites for the Residency Training Program [Diplôme d'Études Spécialisées] in Internal Medicine and Clinical Immunology (DES-MIIC) in France.

Method: All local coordinators of the DES-MIIC were contacted to establish the list of approved internship sites for the MIIC DES within their geographical subdivision.

Results: We listed 244 approved training sites, of which 87 (35.

The Influence of Phenylalanine Fluctuations and Intake on a 24 h Sapropterin Responsiveness Test in Patients with Phenylketonuria.

Unlabelled: Patients with phenylketonuria (PKU) who retain residual phenylalanine hydroxylase (PAH) activity may benefit from sapropterin dihydrochloride (sapropterin) administration.

Objective: To characterize sapropterin responsiveness in patients with PKU and investigate the impact of natural fluctuations in phenylalanine (PHE) levels and variations in PHE intake on sapropterin responsiveness.

Methods: Retrospective chart review study.

Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review.

Inherited metabolic diseases (IMDs) are genetic disorders that disrupt biochemical processes in the human body, due to pathogenic variants in genes encoding enzymes or transporters. While IMDs are mostly diagnosed in infancy or childhood, there is an increasing number of diagnoses in adult patients. Delayed diagnosis, particularly in older patients, may reflect the diagnostic odyssey usually observed in rare diseases' patients and can result in complications and reduced quality of life for patients and their families.

The relationship between adult phenylketonuria and the cardiovascular system - insights into mechanisms and risks.

Studies in adults with PKU have mainly focused on the neuropsychiatric complications that may arise in individuals who are unable to maintain the recommended lifetime diet. Some recent epidemiological studies suggest to consider other complications. As such, cardiovascular (CV) issues have been the subject of few studies to date.

Multimodal Metabolomic Analysis Reveals Novel Metabolic Disturbances in Adults With Early Treated Phenylketonuria.

Phenylketonuria (PKU) is an inborn error of metabolism responsible for an accumulation of phenylalanine, which leads to cognitive and developmental disorders if left untreated. Most studies of adult PKU focus on neuropsychiatric complications, but new questions have been raised about systemic manifestations of PKU in adulthood. Fifteen adults with classic PKU with poor metabolic control and 15 matched healthy controls were recruited to compare their blood metabolomes by an untargeted multimodal approach (polar, apolar, and lipids) by LC/MS and a targeted approach to the tryptophan pathway.

Camptocormia as a feature of Mc Ardle's disease: A case report.

Glycogen storage disease type 5 (GSD) is an autosomal recessive metabolic myopathy caused by pathogenic variants in the gene. We report the case of a patient with typical exercise intolerance with a "second wind" phenomenon, associated with camptocormia which is not commonly recognized as a feature of the disease. Molecular analysis of the gene the common c.

Bone mineral density in French adults with early-treated phenylketonuria.

Phenylketonuria (PKU) treatment requires a low-phenylalanine (Phe) diet limiting natural protein intake, using medical low-protein foods and Phe-free amino acids (AA) supplements along with micronutriments' supplies. Current recommendations suggest maintaining this diet for life to prevent neuro-psychological effects of high Phe concentrations. The long-term consequences of such a diet are poorly understood, particularly on bone health.

The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: 10 Years Later, Another Report From the SSIEM Adult Metabolic Physicians Group.

There are still few centres, which specialise in the care of adults with inborn errors of metabolism (IEM). All physicians who participated in the SSIEM adult metabolic physicians group paper in 2014 were contacted to provide updated data on their IEM patients. Fifteen adult centres responded to our survey with information on their patients.

Liver transplantation in glycogen storage disease type III: A case-series.

Glycogen storage disease type III (GSD III) is a rare metabolic disorder characterized by a deficiency of liver and muscle amylo-1,6-glucosidase. This condition presents with severe hepatic symptoms in childhood, mostly hepatomegaly, hypoglycemia in half of patients, while muscular complications may predominate in adulthood. Hepatic fibrosis, cirrhosis and hepatocellular carcinoma (HCC) are common complications in older patients.

Neuropsychological profile of French adults with early-treated phenylketonuria: a multicenter study.

Background And Objective: Adult patients with early-treated phenylketonuria (AwET-PKU) may present some subtle neurocognitive deficits. The aim of the study was to investigate 1) neurocognitive functions in a large group of AwET-PKU 2) the influence of plasma phenylalanine (Phe).

Methods: Participants: 187 AwET-PKU (classic PKU [cPKU] 81%, mild PKU [mPKU] 14%, and mild persistent hyperphenylalaninemia [MPH] 5%).

Olfactory and gustatory perception in Brazilian PKU patients: A cross-sectional study.

Patients with phenylketonuria (PKU) have a highly restrictive diet, which involves restriction of phenylalanine (Phe) intake and daily use of Phe-free metabolic formula. However, little is known about the potential impact of this diet on chemical senses. The present study aimed to evaluate the olfactory and gustatory perceptions of patients with PKU.

Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuria.

Background: Phenylketonuria (PKU) is an inborn error of phenylalanine (Phe) metabolism that, if untreated, causes Phe accumulation in the brain leading to neurophysiologic alterations and poor outcomes. Lifelong management centers on dietary Phe restriction, yet long-term complete metabolic control is unachievable for many adults. High blood Phe levels or chronic Phe and intact protein restriction in the diet may lead to somatic comorbidities.

A specific diagnostic metabolome signature in adult IgA vasculitis.

Introduction: IgA vasculitis diagnosis relies primarily on clinical features and is confirmed by pathological findings. To date, there is no reliable noninvasive diagnostic biomarker.

Objective: We aimed to explore the baseline serum metabolome of adult patients with IgA vasculitis to identify potential diagnostic biomarkers.

Belimumab corticosteroid-sparing treatment in systemic lupus erythematosus: a real-life observational study (BESST study).

Data about the impact of Belimumab on corticosteroid sparing in real life are scarce. To assess the corticosteroid-sparing effect among patients with systemic lupus erythematosus (SLE) treated with Belimumab in real-life settings. Multicentric observational retrospective study including patients with SLE and having received Belimumab for at least 6 months between 2011 and 2020, in eight French hospitals.

Homocysteine and methylmalonic acid in Phenylketonuria patients.

Hyperhomocysteinemia and vitamin B12 deficiency have been reported in patients with phenylketonuria. In this study, total homocysteine (tHcy) and methylmalonic acid (MMA) levels were analyzed in samples from 25 phenylketonuria (PKU) patients. Comparisons were made between pre- and post-treatment values (n= 3); on treatment values, between periods with high and normal/low phenylalanine (Phe) levels (n= 20); and in women before, during and after pregnancy (n= 3).

Blood cytopenias as manifestations of inherited metabolic diseases: a narrative review.

Inherited Metabolic Diseases (IMD) encompass a diverse group of rare genetic conditions that, despite their individual rarity, collectively affect a substantial proportion, estimated at as much as 1 in 784 live births. Among their wide-ranging clinical manifestations, cytopenia stands out as a prominent feature. Consequently, IMD should be considered a potential diagnosis when evaluating patients presenting with cytopenia.

Management of phenylketonuria in European PKU centres remains heterogeneous.

Phenylketonuria (PKU) is a genetic disorder that follows an autosomal recessive inheritance pattern. Dietary treatment is the cornerstone of therapy and is based on natural protein restriction, Phe-free L-amino acid supplements (protein substitutes) and low protein foods. The aim of this project was to collect information about the clinical management of patients with PKU, focusing on understudied or unresolved issues such as blood phenylalanine (Phe) fluctuations and clinical symptoms, particularly gastro intestinal (GI) discomfort and sleep problems.

Long-term comparative effectiveness of pegvaliase versus medical nutrition therapy with and without sapropterin in adults with phenylketonuria.

Phenylketonuria is characterized by intellectual disability and behavioral, psychiatric, and movement disorders resulting from phenylalanine (Phe) accumulation. Standard-of-care treatment involves a Phe-restricted diet plus medical nutrition therapy (MNT), with or without sapropterin dihydrochloride, to reduce blood Phe levels. Pegvaliase is an injectable enzyme substitution treatment approved for adult patients with blood Phe >600 μmol/L despite ongoing management.