Establishing how much improvement in lung function and distance walked is clinically important for adult patients with Pompe disease.

Background And Purpose: Pompe disease is a rare, inheritable, progressive metabolic myopathy. This study aimed to estimate the minimal clinically important difference (MCID) for an improvement in forced vital capacity in the upright seated position (FVC) and the 6-min walk test (6MWT) after a year of treatment with enzyme replacement therapy.

Methods: Data were obtained from two prospective follow-up studies.

Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.

Glutaric aciduria type 1 is a rare inherited neurometabolic disorder of lysine metabolism caused by pathogenic gene variations in GCDH (cytogenic location: 19p13.13), resulting in deficiency of mitochondrial glutaryl-CoA dehydrogenase (GCDH) and, consequently, accumulation of glutaric acid, 3-hydroxyglutaric acid, glutaconic acid and glutarylcarnitine detectable by gas chromatography/mass spectrometry (organic acids) and tandem mass spectrometry (acylcarnitines). Depending on residual GCDH activity, biochemical high and low excreting phenotypes have been defined.

A review of treatment modalities in gyrate atrophy of the choroid and retina (GACR).

Unlabelled: Gyrate atrophy of the choroid and retina (GACR) is a rare inborn error of amino acid metabolism caused by bi-allelic variations in OAT. GACR is characterised by vision decline in early life eventually leading to complete blindness, and high plasma ornithine levels. There is no curative treatment for GACR, although several therapeutic modalities aim to slow progression of the disease by targeting different steps within the ornithine pathway.

Postoperative use of somatostatin analogs and mortality in patients with acromegaly.

Objective To assess the effect of somatostatin analogs (SSAs) on mortality in relation to disease control of acromegaly after pituitary surgery. Design A retrospective study in two large tertiary referral centers in The Netherlands. Methods Overall, 319 patients with acromegaly in whom pituitary surgery was performed as primary therapy between January 1980 and July 2017 were included.

Toward Shorter Hospitalization After Endoscopic Transsphenoidal Pituitary Surgery: Day-by-Day Analysis of Early Postoperative Complications and Interventions.

Background: It is unclear which patients have the greatest risk of developing complications in the first days after endoscopic transsphenoidal pituitary surgery (ETS) and how long patients should stay hospitalized after surgery. The objective of this study is to identify which patients are at risk for early postoperative medical and surgical reinterventions to optimize the length of hospitalization.

Methods: The medical records of 146 patients who underwent ETS for a pituitary adenoma between January 2013 and July 2016 were reviewed retrospectively.

Osteoporosis in patients with erythropoietic protoporphyria.

Background: Erythropoietic protoporphyria (EPP) is a rare metabolic disease with painful photosensitivity due to protoporphyrin IX accumulation.

Objectives: To evaluate bone mineral density (BMD) and known osteoporosis risk factors in patients with EPP.

Methods: Patients with EPP attending the Erasmus MC outpatient clinic who had undergone BMD measurements were included.

New insights in the neurological phenotype of aceruloplasminemia in Caucasian patients.

Introduction: The diagnosis aceruloplasminemia is usually made in patients with advanced neurological manifestations of the disease. In these patients prognosis is poor, disabilities are severe and patients often die young. The aim of our study was to facilitate recognition of aceruloplasminemia at a disease stage at which treatment can positively influence outcome.

Quantification of Diaphragm Mechanics in Pompe Disease Using Dynamic 3D MRI.

Background: Diaphragm weakness is the main reason for respiratory dysfunction in patients with Pompe disease, a progressive metabolic myopathy affecting respiratory and limb-girdle muscles. Since respiratory failure is the major cause of death among adult patients, early identification of respiratory muscle involvement is necessary to initiate treatment in time and possibly prevent irreversible damage. In this paper we investigate the suitability of dynamic MR imaging in combination with state-of-the-art image analysis methods to assess respiratory muscle weakness.

Lung MRI and impairment of diaphragmatic function in Pompe disease.

Background: Pompe disease is a progressive metabolic myopathy. Involvement of respiratory muscles leads to progressive pulmonary dysfunction, particularly in supine position. Diaphragmatic weakness is considered to be the most important component.

Posterior fossa syndrome in a patient with an ornithine transcarbamylase deficiency.

Unlabelled: The posterior fossa syndrome (PFS) is a well-known clinical entity and mainly occurs in children. Ornithine transcarbamylase deficiency (OTC) is the most common urea cycle disorder, which occurs in an estimated 1 per 50.000 live births in Japan.

Aceruloplasminemia presents as Type 1 diabetes in non-obese adults: a detailed case series.

Aim: To detect features that might lead to the early diagnosis and treatment of aceruloplasminemia, as initiation of treatment before the onset of neurological symptoms is likely to prevent neurological deterioration.

Methods: The PubMed and OMIM databases were searched for published cases of aceruloplasminemia. Diagnostic criteria for aceruloplasminemia were undetectable or very low serum ceruloplasmin, hyperferritinemia and low transferrin saturation.

A series of pregnancies in women with inherited metabolic disease.

In this case series we report 12 pregnancies, in women treated at four centres, illustrating some of the issues that may be encountered during pregnancy by women with inherited metabolic disease. We discuss how specific pregnancy, labour and delivery issues for mothers with methylmalonic acidemia, homocystinuria, propionic acidemia, glutaric acidemia type 1, ornithine transcarbamylase (OTC) deficiency and 3-hydroxy-3-methylglutaric(HMG)-CoA lyase deficiency were managed and the outcome for the mother and child in each case. Eight of the 12 pregnancies resulted in the successful delivery of a liveborn infant.