Journal of Inherited Metabolic Disease This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Medical and financial burden of acute intermittent porphyria
AbstractIntroductionA small proportion of patients with acute intermittent porphyria (AIP) suffer from recurrent porphyric attacks, with a severely diminished quality of life. In this retrospective case-control study, the burden of disease is quantified and compared among three AIP patient subgroups: cases with recurrent attacks, cases with one or occasional attacks and asymptomatic carriers.MethodsData from patient records and questionnaires were collected in patients between 1960 and 2016 at the Erasmus Medical Center, Rotterdam, the Netherlands. We collected symptoms related to porphyria, porphyria related complications...
Source: Journal of Inherited Metabolic Disease - April 19, 2018 Category: Internal Medicine Source Type: research

Intrafamilial oocyte donation in classic galactosemia: ethical and societal aspects
This study aimed to provide guidance in aspects to con sider based on the views of different groups involved in the oocyte donation process. A qualitative study using in-depth semi-structured interviews with>  50 participants (patients, family members, and healthcare providers) was conducted. From these interviews, themes of concern emerged, which are illustrated and reviewed: (1) family relations, (2) medical impact, (3) patients’ cognitive level, (4) agreements to be made in advance and organization of counseling, (5) disclosure to the child, and (6) need for follow-up. We conclude that discussing and carrying out ...
Source: Journal of Inherited Metabolic Disease - April 18, 2018 Category: Internal Medicine Source Type: research

Molecular biology and gene therapy for glycogen storage disease type Ib
AbstractGlycogen storage disease type Ib (GSD-Ib) is caused by a deficiency in the ubiquitously expressed glucose-6-phosphate (G6P) transporter (G6PT or SLC37A4). The primary function of G6PT is to translocate G6P from the cytoplasm into the lumen of the endoplasmic reticulum (ER). Inside the ER, G6P is hydrolyzed to glucose and phosphate by either the liver/kidney/intestine-restricted glucose-6-phosphatase- α (G6Pase-α) or the ubiquitously expressed G6Pase-β. A deficiency in G6Pase-α causes GSD type Ia (GSD-Ia) and a deficiency in G6Pase-β causes GSD-I-related syndrome (GSD-Irs). In gluconeogenic organs, functional c...
Source: Journal of Inherited Metabolic Disease - April 16, 2018 Category: Internal Medicine Source Type: research

Dental and periodontal manifestations of glycogen storage diseases: a case series of 60 patients
AbstractGlycogen storage diseases (GSDs) are rare genetic disorders of glycogen metabolism where the liver, kidneys, respiratory and cardiac muscles, as well as the immune and skeletal systems can be affected. Oral manifestations can also be present, but the specificity and frequency of these manifestations in the different forms of GSD are unknown. Analysis of a case series of 60 patients presenting four types of GSD (Ia, Ib, III, and IX) showed that the different types of GSDs have common and specific oral manifestations. In none of the GSD types studied, the prevalence of caries was higher than in the general population...
Source: Journal of Inherited Metabolic Disease - April 16, 2018 Category: Internal Medicine Source Type: research

The role of the Human Metabolome Database in inborn errors of metabolism
AbstractMetabolomics holds considerable promise to advance our understanding of human disease, including our understanding of inborn errors of metabolism (IEM). The application of metabolomics in IEM research has already led to the discovery of several novel IEMs and the identification of novel IEM biomarkers. However, with hundreds of known IEMs and more than 700 associated IEM metabolites, it is becoming increasingly challenging for clinical researchers to keep track of IEMs, their associated metabolites, and their corresponding metabolic mechanisms. Furthermore, when using metabolomics to assist in IEM biomarker discove...
Source: Journal of Inherited Metabolic Disease - April 16, 2018 Category: Internal Medicine Source Type: research

Recognizable phenotypes in CDG
AbstractPattern recognition, using a group of characteristic, or discriminating features, is a powerful tool in metabolic diagnostic. A classic example of this approach is used in biochemical analysis of urine organic acid analysis, where the reporting depends more on the correlation of pertinent positive and negative findings, rather than on the absolute values of specific markers. Similar uses of pattern recognition in the field of biochemical genetics include the interpretation of data obtained by metabolomics, like glycomics, where a recognizable pattern or the presence of a specific glycan sub-fraction can lead to the...
Source: Journal of Inherited Metabolic Disease - April 13, 2018 Category: Internal Medicine Source Type: research

Medium-chain triglycerides supplement therapy with a low-carbohydrate formula can supply energy and enhance ammonia detoxification in the hepatocytes of patients with adult –onset type II citrullinemia
We present the therapy for six CTLN2 patients. All the patients’ general condition steadily improved and five patients with hyperammonemic encephalopathy recovered from unconsciousness in a few days. Before the treatment, plasma glutamine levels did not increase over the normal range and rather decreased to lower than the normal range in some patients. The treatment promptly decreased the blood ammonia leve l, which was accompanied by a decrease in plasma citrulline levels and an increase in plasma glutamine levels. These findings indicated that hyperammonemia was not only caused by the impairment of ureagenesis at ASS1 ...
Source: Journal of Inherited Metabolic Disease - April 12, 2018 Category: Internal Medicine Source Type: research

The decision to discontinue screening for carnitine uptake disorder in New Zealand
AbstractWhen screening for carnitine uptake disorder (CUD), the New Zealand (NZ) newborn screening (NBS) service identified infants as screen-positive if they had initial and repeat free carnitine (C0) levels of less than 5.0  μmol/L. Since 2006, the NBS service has identified two infants with biochemical and genetic features consistent with neonatal CUD and nine mothers with features consistent with maternal CUD. A review of the literature suggests that these nine women reflect less than half the true prevalence and t hat CUD is relatively common. However, the NZ results (two infants) suggest a very low sensitivity and ...
Source: Journal of Inherited Metabolic Disease - April 9, 2018 Category: Internal Medicine Source Type: research

Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism
AbstractSignificant improvements in automated image analysis have been achieved in recent years and tools are now increasingly being used in computer-assisted syndromology. However, the ability to recognize a syndromic facial gestalt might depend on the syndrome and may also be confounded by severity of phenotype, size of available training sets, ethnicity, age, and sex. Therefore, benchmarking and comparing the performance of deep-learned classification processes is inherently difficult. For a systematic analysis of these influencing factors we chose the lysosomal storage diseases mucolipidosis as well as mucopolysacchari...
Source: Journal of Inherited Metabolic Disease - April 5, 2018 Category: Internal Medicine Source Type: research

A preliminary study of telemedicine for patients with hepatic glycogen storage disease and their healthcare providers: from bedside to home site monitoring
ConclusionsThis report describes the design, development, and validation process of a telemedicine platform for patients with hepatic GSD. The GCP can facilitate home site monitoring and data exchange between patients with hepatic GSD and healthcare providers under varying circumstances. In the future, the GCP may support cross-border healthcare, second opinion processes and clinical trials, and could possibly also be adapted for other diseases for which a medical diet is the cornerstone. (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - March 29, 2018 Category: Internal Medicine Source Type: research

Allogeneic hematopoietic cell transplantation in Farber disease
ConclusionAllogeneic HCT leads to complete and persistent resolution of the inflammatory aspects in FD patients. It appears to have no beneficial effect on progression of nervous system involvement. New mutations in the acid ceramidase gene were identified. A genotype/phenotype correlation could not be established. (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - March 29, 2018 Category: Internal Medicine Source Type: research

The rendering of human phenotype and rare diseases in ICD-11
AbstractICD-11 (International Classification of Diseases, 11th Revision) is the next major revision of the ICD by the World Health Organization (WHO). ICD-11 differs dramatically from historical versions, as it is based on an underlying semantic network of terms and meaning, called the Foundation. To function as a mutually exclusive and exhaustive statistical classification, ICD-11 creates derivative linearizations from the network that is a monohierarchy with residual categories such as Not Elsewhere Classified. ICD-11 also introduces the widespread post-coordination of terms, which allows for highly expressive representa...
Source: Journal of Inherited Metabolic Disease - March 29, 2018 Category: Internal Medicine Source Type: research

Pregnancy management and outcome in patients with four different tetrahydrobiopterin disorders
ConclusionAlthough our data on 16 pregnancies in seven patients did not  present any association of standard drug treatment with an increased rate of pregnancy complications, abnormal obstetrical or paediatric outcome, an intensive clinical and biochemical supervision by a multidisciplinary team before, during and after the pregnancy in any BH4 deficiency is essential since available data on pregnancies in patients with BH4 deficiencies is limited. (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - March 28, 2018 Category: Internal Medicine Source Type: research

Newborn screening for Pompe disease: impact on families
AbstractPompe disease (PD) is an autosomal recessive lysosomal storage disorder causing progressive glycogen accumulation in muscles, with variability in age of onset and severity. For infantile-onset PD (IOPD), initiation of early treatment can be life-saving; however, current newborn screening (NBS) technology cannot distinguish IOPD from late-onset PD (LOPD) without clinical workup. Therefore, families of LOPD infants diagnosed by NBS may now spend years or even decades aware of their illness before symptoms appear, creating a pre-symptomatic awareness phase with which the medical community has little experience. The pr...
Source: Journal of Inherited Metabolic Disease - March 28, 2018 Category: Internal Medicine Source Type: research

Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria
AbstractAcute intermittent porphyria (AIP), an autosomal dominant disorder due to the half-normal activity of hydroxymethylbilane synthase (HMBS), is characterized by acute neurovisceral attacks that are precipitated by factors that induce heme biosynthesis. Molecular diagnosis is the most sensitive and specific diagnostic test for AIP, and importantly, it permits the identification of asymptomatic family members for genetic counseling and avoidance of precipitating factors. Here, we report the identification of 40 novelHMBS mutations, including 11 missense, four nonsense, 16 small insertions or deletions, eight consensus ...
Source: Journal of Inherited Metabolic Disease - March 28, 2018 Category: Internal Medicine Source Type: research