Congenital sucrase–isomaltase deficiency: diagnostic challenges and response to enzyme replacement therapy

2015 ◽  
Vol 100 (9) ◽  
pp. 869-871 ◽  
Author(s):  
J W L Puntis ◽  
V Zamvar
Keyword(s):  
Marked Reduction ◽  
Watery Diarrhoea ◽  
Jejunal Mucosa ◽  
Genetic Condition ◽  
Enzyme Replacement ◽  
Presenting Symptoms ◽  
Gene Testing ◽  
Breath Testing ◽  
Deficiency Gene ◽  
Oral Sucrose

Congenital sucrase–isomaltase (SI) deficiency is a rare genetic condition characterised by a deficiency in the brush-border SI enzyme, resulting in an inability to metabolise sucrose and starches. Six cases of congenital SI deficiency treated with Sucraid (sacrosidase, a yeast-derived enzyme that facilitates sucrose digestion) are described. Typical presenting symptoms were watery diarrhoea, abdominal pain and bloating, sometimes noticeably worse after ingestion of fruit. Diagnosis is challenging since conventional hydrogen breath testing after an oral sucrose load is impractical in young children, and many laboratories no longer look for maldigested sucrose using faecal sugar chromatography. Confirmation is by disaccharidase assay of duodenal or jejunal mucosa obtained endoscopically. All six patients showed little improvement following advice regarding dietary management, but experienced a marked reduction in symptoms with sacrosidase administration; no adverse events were reported. Sacrosidase is an effective and well-tolerated treatment for patients with congenital SI deficiency. Gene testing and clinical trial of sacrosidase may become an alternative to endoscopic biopsies for diagnosis.

Carbohydrate intolerance

2018 ◽  
Author(s):  
John Puntis
Keyword(s):  
Enzyme Assay ◽  
Watery Diarrhoea ◽  
Dietary Modification ◽  
Breath Hydrogen ◽  
Common Cause ◽  
Enzyme Replacement ◽  
Gene Testing ◽  
Lactose Maldigestion ◽  
Genetically Determined ◽  
Carbohydrate Intolerance

Symptoms such as watery diarrhoea, wind, and abdominal cramps should raise the possibility of carbohydrate intolerance. Lactose maldigestion is the most common cause and can be transient, after gastroenteritis, or in some populations is genetically determined with increasing age. Congenital sucrase–isomaltase deficiency (CSID) is underdiagnosed but amenable to treatment with dietary modification and oral enzyme replacement. Glucose–galactose malabsorption presents with watery diarrhoea from the time of first feeds. Investigations include sugar chromatography (when available), breath hydrogen testing, mucosal enzyme assay, and gene testing for CSID.

Islet glucan-1,4-α-glucosidase: differential influence on insulin secretion induced by glucose and isobutylmethylxanthine in mice

1993 ◽  
Vol 138 (3) ◽  
pp. 391-400 ◽  
Author(s):  
A. Salehi ◽  
I. Lundquist
Keyword(s):  
Insulin Secretion ◽  
Insulin Release ◽  
Marked Reduction ◽  
Insulin Response ◽  
Indirect Evidence ◽  
Secretory Response ◽  
Isolated Pancreatic Islets ◽  
Enzyme Replacement ◽  
Insulin Secretory Response

ABSTRACT In previous in-vivo studies we have presented indirect evidence for the involvement of islet acid glucan-1,4-α-glucosidase (acid amyloglucosidase), a lysosomal glycogen-hydrolysing enzyme, in certain insulin secretory processes. In the present combined in-vitro and in-vivo investigation, we studied whether differential changes in islet acid amyloglucosidase activity were related to the insulin secretory response induced by two mechanistically different secretagogues, glucose and isobutylmethylxanthine (IBMX). It was observed that addition of the selective α-glucosidehydrolase inhibitor emiglitate (1 mmol/l) to isolated pancreatic islets resulted in a marked reduction of glucose-induced insulin release. This was accompanied by a pronounced suppression of islet activities of acid amyloglucosidase and acid α-glucosidase, whereas other lysosomal enzyme activities, such as acid phosphatase and N-acetyl-β-d-glucosaminidase, were unaffected. Furthermore, islets first incubated with emiglitate in the presence of high (16·7 mmol/l) glucose released less insulin than untreated controls in response to glucose in a second incubation period in the absence of emiglitate. In contrast, IBMX-induced insulin release was not influenced by emiglitate although accompanied by a marked reduction of islet activities of all three α-glucosidehydrolases. Basal insulin secretion (1 mmol glucose/1) was unaffected in the presence of emiglitate. In-vivo pretreatment of mice with highly purified fungal amyloglucosidase ('enzyme replacement'), a procedure known to increase islet amyloglucosidase activity, resulted in a greatly enhanced insulin secretory response to an i.v. glucose load. The increase in insulin release was accompanied by a markedly improved glucose tolerance curve in these animals. In contrast, enzyme pretreatment did not influence the insulin response or the blood glucose levels after an i.v. injection of IBMX. The data lend further support to our hypothesis that islet acid amyloglucosidase is involved in the multifactorial insulin secretory processes induced by glucose but not in those involving direct activation of the cyclic AMP system. The results also indicate separate, or at least partially separate, pathways for insulin release induced by glucose and IBMX. Journal of Endocrinology (1993) 138, 391–400

scholarly journals Mucopolysaccharidosis Type I in Children, a Forgotten Diagnosis Responsible for Undiagnosed Musculoskeletal Complaints: Report of Two Cases

2019 ◽  
Vol 62 (4) ◽  
pp. 161-165
Author(s):  
Soheila Hoseinzadeh Moghadam ◽  
Masood Ghahvechi ◽  
Fatemeh Mozafari ◽  
Fatemeh Sayarifard ◽  
Mahdieh-Sadat Mousavi ◽  
...  
Keyword(s):  
Underlying Mechanism ◽  
Type I ◽  
Musculoskeletal Complaints ◽  
Lysosomal Storage ◽  
Multiple Systems ◽  
Enzyme Replacement ◽  
Presenting Symptoms ◽  
Key Factor ◽  
Delays In Diagnosis ◽  
Clinical Conditions

Mucopolysaccharidoses (MPS) are a subgroup of lysosomal storage disorders. The underlying mechanism of MPS disorders are deficiency in specific enzymes which leads to accumulation of partially degraded glycosaminoglycans (GAGs) in various tissues. A wide variety of manifestations are reported but musculoskeletal complaints are common among them. In milder forms of MPS, musculoskeletal complaints are presenting symptoms. Delays in diagnosis due to unspecific and mild symptoms is common. Misdiagnosis of MPS as juvenile idiopathic arthritis and other inflammatory arthritis disorders is frequent. Early diagnosis and treatment prevents irreversible cellular damages and is a key factor in efficacy of enzyme replacement therapy. In this study we described two MPS patients with musculoskeletal complaints who were not diagnosed for a period of time. Although musculoskeletal manifestation are common in a variety of clinical conditions, their presence at low ages or co-occurrence of other manifestations (such as cardiac, respiratory, neurologic, etc.) in multiple systems should prompt evaluation of patients for MPS and other metabolic disorders. The rheumatologists’ awareness on MPS should be promoted to achieve timely diagnosis and subsequent early treatment.

Malignant Hyperthermia

2005 ◽  
Vol 15 (9) ◽  
pp. 376-382 ◽  
Author(s):  
Beverley Mcneil
Keyword(s):  
Metabolic Acidosis ◽  
Body Temperature ◽  
Malignant Hyperthermia ◽  
Effective Treatment ◽  
Surgical Procedure ◽  
Medical Emergency ◽  
Muscle Rigidity ◽  
Genetic Condition ◽  
Presenting Symptoms ◽  
First Time

Malignant Hyperthermia (MH) is a rare genetic condition which may manifest for the first time during anaesthesia associated with a routine surgical procedure. Characterised initially by muscle rigidity, increased body temperature and metabolic acidosis, the syndrome may prove fatal unless prompt, effective treatment is administered. The sudden development of MH constitutes a medical emergency; hence it is essential that theatre practitioners are knowledgeable about the presenting symptoms and management of the condition.

090 The expanding clinical phenotype of late onset pompe disease: a multi-system disorder

2018 ◽  
Vol 89 (6) ◽  
pp. A36.2-A36 ◽  
Author(s):  
Katrina Reardon ◽  
Penny McKelvie
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Late Onset ◽  
Cost Effective ◽  
Neuromuscular Disorder ◽  
Laboratory Findings ◽  
Enzyme Replacement ◽  
Presenting Symptoms ◽  
Clinical Cases

IntroductionThe diagnosis of late onset Pompe disease (LOPD) can be difficult and delayed due to heterogeneous presentation. LOPD was typically a triad of weakness affecting the limb girdle, respiratory and axial muscles. Recent reports highlight more widespread, less well recognised, multi system manifestations of LOPD.CasesThree clinical cases of LOPD are described with atypical presenting manifestations for many years, who after diagnosis and investigation all qualified for enzyme replacement therapy. A review of the literature on the manifestations of LOPD is presented. These three clinical cases highlight important clues and pitfalls in making a diagnosis of LOPD when there are subtle presenting symptoms for many years on history, examination or investigations. The literature review has broadened our clinical perspective with reports of multi-system manifestations of LOPD. The manifestations of LOPD may be seen by clinicians in a wide variety of fields including neurology, stroke, rheumatology, gastroenterology, cardiovascular, respiratory, genitourinary and metabolic bone medicine. LOPD will present to a wide variety of specialists with symptoms, who may not be aware of this potential diagnosis. These reports will change our concept of what is LOPD and encourage investigation for this disorder. The dried blood spot testing for diagnosis of LOPD is beneficial, cost effective and non-invasive.ConclusionLOPD is an under diagnosed and often misdiagnosed neuromuscular disorder which is now recognised as having other associated multi-system features which can be identified on history, examination or laboratory findings. These patients may present to a wide variety of health professionals with symptoms and greater awareness in needed. Early diagnosis of patients with LOPD disease will allow better management, prevent complications and may improve outcomes now that enzyme replacement therapy is available for certain individuals.

Surface Ultrastructure of Human Ectocervix in Certain Pathological Conditions

1985 ◽  
Vol 43 ◽  
pp. 570-571
Author(s):  
S. Mukherjee ◽  
T. Guha ◽  
B. Chakrabarti ◽  
P. Chakrabarti
Keyword(s):  
Epithelial Cells ◽  
Marked Reduction ◽  
Squamous Epithelium ◽  
Malignant Tumour ◽  
Surface Ultrastructure ◽  
Normal Tissues ◽  
Pathological Conditions ◽  
Hexagonal Shape ◽  
Columnar Cells ◽  
Scanning Electron

The cervix is an important organ in reproduction. Its malfunction is frequently a factor for infertility. Ectocervix region does not appear to have received much attention although many studies have been reported on the endocervix. We report here our SEM observations on ectocervix in certain pathological conditions compared to normal ectocervix.Ectocervix specimens from human females with specific pathological disorders were processed for Scanning Electron Microscopy by conventional method and they were examined in a Philips SEM.The normal ectocervix is lined by flat layer of squamous epithelial cells with microridges (Fig. 1). These cells are known to be formed from columnar cells through metaplastic transformation. The cells of carcinoma-bearing ectocervix show a disorganised appearance (Fig. 2). In non-malignant tumour surface some cuboidal and few columnar cells were seen (Fig. 3). A cyst appears like an overgrowth on the surface of the squamous epithelium (Fig. 4). In ulcerated ectocervix a marked reduction of epithelial cells are observed (Fig. 5); the cells are devoid of microridges and, the large polygonal cells, as observed in normal tissues, have somehow acquired comparatively small hexagonal shape

Cardiac and motor improvement with enzyme replacement therapy in a patient with infantile-onset Pompe disease

2005 ◽  
Vol 36 (02) ◽  
Author(s):  
M Smitka ◽  
M von der Hagen ◽  
A Kaindl ◽  
C Gilitzer ◽  
J Dumontier ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Enzyme Replacement ◽  
Motor Improvement

Filming Non-Normative Embodiment: Power, Sexuality and Genetic Difference inJabe Babe – A Heightened Life, a Documentary about a Dominatrix with Marfan Syndrome

Somatechnics ◽  
2011 ◽  
Vol 1 (2) ◽  
pp. 334-356
Author(s):  
Janet Merewether
Keyword(s):  
Marfan Syndrome ◽  
Genetic Difference ◽  
Hybrid Mode ◽  
Genetic Condition ◽  
Modes Of Representation ◽  
Artificial Boundaries ◽  
Genetic Conformity

This article will examine the ethical and directorial challenges faced by the documentary filmmaker when collaborating with a central subject who lives with a potentially fatal genetic condition, whilst pursuing a career as a professional dominatrix. What modes of representation and collaboration are open to the director, when artificial boundaries and television genre categorisations such as ‘the science documentary’, ‘the biography’ and the fetish or ‘porno film’ seem limiting? Jabe Babe – A Heightened Life ( Merewether 2005 ) seeks to collapse and merge these conventionally distinct practices by developing a hybrid mode of representation, provoking questions about society's desire for sexual, visual, and genetic conformity.

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