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Mucolipidosis type III, a series of adult patients
ConclusionsSevere skeletal abnormalities, resulting from abnormal bone development and severe progressive osteoarthritis, are the hallmark of MLIII, necessitating surgical orthopaedic interventions early in life. Future therapies for this disease should focus on improving cartilage and bone quality, preventing skeletal complications and improving mobility. (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - September 1, 2018 Category: Internal Medicine Source Type: research

Organic acidurias in adults: late complications and management
AbstractOrganic acidurias (synonym, organic acid disorders, OADs) are a heterogenous group of inherited metabolic diseases delineated with the implementation of gas chromatography/mass spectrometry in metabolic laboratories starting in the 1960s and 1970s. Biochemically, OADs are characterized by accumulation of mono-, di- and/or tricarboxylic acids ( “organic acids”) and corresponding coenzyme A, carnitine and/or glycine esters, some of which are considered toxic at high concentrations. Clinically, disease onset is variable, however, affected individuals may already present during the newborn period with life-threaten...
Source: Journal of Inherited Metabolic Disease - September 1, 2018 Category: Internal Medicine Source Type: research

Treatment with chenodeoxycholic acid in cerebrotendinous xanthomatosis: clinical, neurophysiological, and quantitative brain structural outcomes
ConclusionCDCA may reverse the pathophysiological process in patients with CTX, especially if treatment is initiated early in the disease process. Besides tendon xanthoma, this study stresses the need to consider plasma cholestanol measurement in any patient with infantile chronic diarrhea and/or jaundice, juvenile cataract, learning disability and/or autism spectrum disorder, pyramidal signs, cerebellar syndrome or peripheral neuropathy. (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - September 1, 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 - September 1, 2018 Category: Internal Medicine Source Type: research

Hepatocellular carcinoma in Gaucher disease: an international case series
AbstractGaucher disease (GD) is associated with an increased risk for malignancies. Next to hematological malignancies, the development of solid tumors in several organs has been described. The liver is one of the major storage sites involved in GD pathogenesis, and is also affected by liver-specific complications. In this case series, we describe 16 GD type 1 (GD1) patients from eight different referral centers around the world who developed hepatocellular carcinoma (HCC). Potential factors contributing to the increased HCC risk in GD patients are studied. Eleven patients had undergone a splenectomy in the past. Liver cir...
Source: Journal of Inherited Metabolic Disease - September 1, 2018 Category: Internal Medicine Source Type: research

Oxygen in mitochondrial disease: can there be too much of a good thing?
(Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - September 1, 2018 Category: Internal Medicine Source Type: research

Risks and benefits of oxygen therapy
(Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - September 1, 2018 Category: Internal Medicine Source Type: research

The phenotype of adult versus pediatric patients with inborn errors of metabolism
AbstractUntil recently, inborn errors of metabolism (IEM) were considered a pediatric specialty, as emphasized by the term “inborn,” and the concept of adult onset IEM has only very recently reached the adult medical community. Still, an increasing number of adult onset IEM have now been recognized, as new metabolomics and molecular diagnostic techniques have become available. Here, we discuss possible mechanisms un derlying phenotypic variability in adult versus children with IEM. Specifically, phenotypic severity and age of onset are expected to be modulated by differences in residual protein activity possibly driven...
Source: Journal of Inherited Metabolic Disease - September 1, 2018 Category: Internal Medicine Source Type: research

A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia
AbstractMutations in theSEPSECS gene are associated with pontocerebellar hypoplasia type 2D. Pontocerebellar hypoplasia (PCH) is a heterogeneous group of rare autosomal recessive neurodegenerative disorders, mainly affecting pons and cerebellum. Patients have severe motor and cognitive impairments and often die during infancy. Here, we report a 23-year-old woman with slowly progressive cerebellar ataxia and cognitive impairment, in whom a homozygous missense mutation in theSEPSECS gene (c.1321G>A; p.Gly441Arg) was identified with whole exome sequencing. Our findings underline that defects in selenoprotein synthesis can ...
Source: Journal of Inherited Metabolic Disease - September 1, 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 - September 1, 2018 Category: Internal Medicine Source Type: research

Olipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30 months
This study demonstrates that treatment with olipudase alfa for 30 months is well-tolerated and associated with life-transforming sustained improvem ents in relevant disease clinical measures. (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - September 1, 2018 Category: Internal Medicine Source Type: research

A double-blind, placebo-controlled trial of triheptanoin in adult polyglucosan body disease and open-label, long-term outcome
ConclusionsWe cannot conclude that triheptanoin was effective in the treatment of APBD over a 6-month period, but we found it had a good safety profile. This study also emphasizes the difficulty of conducting trials in very rare diseases presenting with a wide clinical heterogeneity.ClinicalTrials.gov Identifier: NCT00947960. (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - September 1, 2018 Category: Internal Medicine Source Type: research

Presentation, progression, and predictors of ovarian insufficiency in classic galactosemia
AbstractClassic galactosemia (CG) is an inherited metabolic disorder that affects about 1 in 50,000 live births in the United States and many other countries. With the benefit of early detection by newborn screening and rapid dietary restriction of galactose, generally achieved by removing dairy from the diet, most affected infants are spared the acute and potentially lethal symptoms of disease. Despite early detection and life-long dietary intervention, however, most patients grow to experience a constellation of long-term complications that include premature ovarian insufficiency in the vast majority of girls and young w...
Source: Journal of Inherited Metabolic Disease - September 1, 2018 Category: Internal Medicine Source Type: research

Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease
ConclusionsChildren withPOLG mutations can manifest with a wide spectrum of abnormal movements, which are often prominent features of the clinical syndrome. Underlying pathophysiology is probably multifactorial, and aberrant monoamine metabolism is likely to play a role. (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - August 30, 2018 Category: Internal Medicine Source Type: research