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.

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.

DIAGNOSTICS AND ENZYME REPLACEMENT THERAPY OF CHILDHOOD-ONSET HYPOPHOSPHATASIA IN A 5-YEAR-OLD BOY

2021 ◽  
Vol 100 (3) ◽  
pp. 289-294
Author(s):  
M.K. Soboleva ◽  
◽  
E.A. Maslova ◽  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Primary Teeth ◽  
Clinical Evidence ◽  
Correct Diagnosis ◽  
Pathological Process ◽  
Childhood Onset ◽  
Enzyme Replacement ◽  
Detection Of Mutations ◽  
Genetically Determined

The article presents a clinical case report of hypophosphatasia, a rare congenital genetically determined disease diagnosed in a boy at the age of 3 years and 6 months. The diagnostic search took more than 2 years before the correct diagnosis was made, which is explained by the rarity of the disease and the lack of doctors awareness about it. The pathology was suspected on the basis of a combination of clinical evidence and characteristic complaints (early loss of primary teeth with an unchanged root, rickets-like skeletal deformities, motility disorders) in combination with a pathologically low level of alkaline phosphatase. The detection of mutations characteristic of the disease in the ALPL gene in the boy, his mother and father made it possible to finally confirm the diagnosis. The patient received a 7-month course of enzyme replacement therapy with Asfotase alfa, which significantly slowed down the progression of the disease and was not accompanied by the development of side effects. A feature of the patient's disease is the involvement of the urinary system in the pathological process, which is manifested by hypercalciuria, nephrocalcinosis and decreased renal function.

scholarly journals Evaluating Diagnostic Criteria for Lactose Maldigestion in Children Using Breath Hydrogen Testing † 577

1998 ◽  
Vol 43 ◽  
pp. 101-101
Author(s):  
David A Gremse ◽  
Jonathan Vacik ◽  
A Scott Greer ◽  
Elizabeth Fillingim ◽  
Alan J Sacks ◽  
...  
Keyword(s):  
Diagnostic Criteria ◽  
Breath Hydrogen ◽  
Lactose Maldigestion

Increased Risk of Osteopenic Fractures in Elderly Patients with Gaucher Disease.

Blood ◽  
2007 ◽  
Vol 110 (11) ◽  
pp. 2403-2403
Author(s):  
Neal J. Weinreb ◽  
Lisa Costantini
Keyword(s):  
Gaucher Disease ◽  
Dual Energy ◽  
Mineral Density ◽  
Common Cause ◽  
X Ray ◽  
Enzyme Replacement ◽  
Normal Bone ◽  
Increased Risk ◽  
Z Scores ◽  
Risk Treatment

Abstract Bone disease is a common cause of morbidity in Gaucher disease (GD). 60% of adult patients (pts) have decreased bone mineral density (BMD). However, in elderly pts, statistically “normal” BMD may not indicate functionally normal bone strength. Here we report serial dual energy x-ray absorptiometry (DXA) scores and fracture (Fx) occurrence for 29 GD pts age 57–88 (9M, 20F) treated with enzyme replacement therapy (ERT) with imiglucerase, often in conjunction with bisphosphonates. Results: Lumbar (L) spine Z-scores were mostly normal during 9.2 ± 4.9 y on ERT: median −0.50; mean (SD) −0.05 (0.41); centiles 10–90: −1.81 - 1.21. Nonetheless, new Fxs occurred in 13 of 29 (44.8%) pts: hip (6), spine (4), other location (11), multiple sites (7). Fx occurred in 5/8 (62.5%) pts with splenectomy v 8/21 (38.1%) pts without and in 7/20 (35%) N370S homozygotes v 6/9 (67%) with other genotypes. 10y Fx probability: 42% (CI 17–55). L spine T-scores were < −1 for 18/29 pts, indicating persistent osteopenia/osteoporosis in 62%, and < −2.68 in 25%. New Fx occurred in 8/15 (53.0%) pts with T-scores ≤ the median of −1.60 v 5/14 (35.7%) with T-scores > −1.60. Pts with low T scores were predominantly women (13/15F v 7/14M) and had higher use of bisphosphonates (86.7% v. 35.7%). Fx were not restricted to pts with the lowest T-scores. Findings were similar for femoral neck T-scores. Conclusions: Normal DXA Z-scores in elderly GD pts do not indicate low Fx risk. Low T-scores, as seen in our pts, do confer an important Fx risk. The 42% 10y Fx probability in our elderly GD pts is higher than expected for comparably aged individuals without GD. Because other risk factors such as Fx history, nutritional status, and concurrent illness were similar in our pts regardless of Fx status, cumulative pathophysiology from long-standing, untreated GD may independently increase Fx risk. Treatment with ERT may allow pts to achieve normal Z-scores. However, starting ERT late in life, even in conjunction with bisphosphonates, may not reverse established osteopenia/osteoporosis sufficiently to avoid future Fx. Therefore, detection of bone loss in young pts and early therapeutic intervention to achieve and maintain normal BMD is an important component of GD management.

scholarly journals Failure to Improve Parameters of Lactose Maldigestion using the Multiprobiotic Product VSL3 in Lactose Maldigesters: A Pilot Study

2004 ◽  
Vol 18 (2) ◽  
pp. 83-86 ◽  
Author(s):  
Rose Yesovitch ◽  
Albert Cohen ◽  
Andrew Szilagyi
Keyword(s):  
Pilot Study ◽  
Metabolic Activation ◽  
Breath Hydrogen ◽  
Genetic Trait ◽  
Bacterial Adaptation ◽  
Lactose Maldigestion ◽  
Before And After ◽  
Live Bacteria

Lactose maldigestion is a common genetic trait in up to 70% of the world's population. In these subjects, the ingestion of lactose may lead to prebiotic effects which can be confirmed by measurement of breath hydrogen. After a period of continuous lactose ingestion, colonic bacterial adaptation is measurable as improved parameters of lactose digestion. There may be inherent benefits in this process of adaptation which may protect against some diseases. We attempt to link therapeutically beneficial probiotics (VSL3, Seaford Pharmaceuticals Inc, Ontario) with improvement in parameters of lactose maldigestion. Two groups of five subjects with maldigestion were fed one or four packets of VSL3 (one packet containing 450x109live bacteria) before testing and then 17 days later. A 50 g lactose challenge was carried out before and after feeding. While there was a trend toward increasing rather than reducing of summed breath hydrogen, no statistically significant changes were observed between results from before testing and those from testing 17 days later. The authors conclude that direct consumption of the probiotic VSL3 may not improve parameters of lactose maldigestion without metabolic activation. In its present format, therefore, the test for colonic adaptation cannot be used to demonstrate direct bacterial embedding with VSL3.

Chronic Nonspecific Diarrhea: Dietary Relationships

PEDIATRICS ◽  
1979 ◽  
Vol 64 (4) ◽  
pp. 402-407
Author(s):  
Stanley A. Cohen ◽  
Kristy M. Hendricks ◽  
Richard K. Mathis ◽  
Susan Laramee ◽  
W. Allan Walker
Keyword(s):  
Dietary Fat ◽  
Patient Population ◽  
Failure To Thrive ◽  
Dietary Therapy ◽  
Dietary Modification ◽  
Fat Intake ◽  
Common Cause ◽  
Fourth Group ◽  
Fat Consumption ◽  
Time Of Presentation

Chronic nonspecific diarrhea (CNSD) is the most common cause of prolonged diarrhea without failure to thrive. Although it is most commonly seen from ages 6 to 36 months, CNSD may persist until 54 months of age. Forty-four patients with this syndrome had complete dietary histories, and were divided into four groups on the basis of their intakes and responses to its modification. Each of the four groups had significantly less fat in their diet at the time of presentation than did ten non-CNSD patients (P < .005) presenting similarly. In three of the groups, daily fat consumption was increased, irrespective of the adequacy of their initial intakes. In all 38 patients in these groups, this dietary modification was associated with the resolution of symptoms. The fourth group, with initially normal dietary fat ingestion, did not respond to dietary therapy. The overall success rate of the regimen in this patient population was 82%. Carbohydrate, fiber, and caloric contents of the diets did not appear to play as significant a role as fat intake.

scholarly journals Assessment of lactase activity in humans by measurement of galactitol and galactonate in serum and urine after milk intake

2019 ◽  
Vol 109 (2) ◽  
pp. 470-477 ◽  
Author(s):  
Nathalie Vionnet ◽  
Linda H Münger ◽  
Carola Freiburghaus ◽  
Kathryn J Burton ◽  
Grégory Pimentel ◽  
...  
Keyword(s):  
Lactose Intolerance ◽  
Dairy Product ◽  
Primary Objective ◽  
Lactase Persistence ◽  
Common Condition ◽  
Lactase Activity ◽  
Galactose Metabolism ◽  
Lactose Maldigestion ◽  
Genetically Determined ◽  
Serum And Urine

ABSTRACT Background Lactase is an enzyme that hydrolyzes lactose into glucose and galactose in the small intestine, where they are absorbed. Hypolactasia is a common condition, primarily caused by genetic programming, that leads to lactose maldigestion and, in certain cases, lactose intolerance. Galactitol and galactonate are 2 products of hepatic galactose metabolism that are candidate markers for the intake of lactose-containing foods. Objectives The primary objective of the study was to explore the changes in serum and urine metabolomes during postprandial dairy product tests through the association between lactase persistence genotype and the postprandial dynamics of lactose-derived metabolites. Methods We characterized the 6-h postprandial serum kinetics and urinary excretion of lactose, galactose, galactitol, and galactonate in 14 healthy men who had consumed a single dose of acidified milk (800 g) which contained 38.8 g lactose. Genotyping of LCT-13910 C/T (rs4988235) was performed to assess primary lactase persistence. Results There were 2 distinct postprandial responses, classified as high and low metabolite responses, observed for galactose, and its metabolites galactitol and galactonate, in serum and urine. In all but 1 subject, there was a concordance between the high metabolite responses and genetic lactase persistence and between the low metabolite responses and genetic lactase nonpersistence (accuracy 0.92), galactitol and galactonate being more discriminative than galactose. Conclusions Postprandial galactitol and galactonate after lactose overload appear to be good proxies for genetically determined lactase activity. The development of a noninvasive lactose digestion test based on the measurement of these metabolites in urine could be clinically useful. This trial was registered at clinicaltrials.gov as NCT02230345.

scholarly journals Detection of Glucose-6-Phosphate Dehydrogenase Deficient Heterozygotes

Blood ◽  
1967 ◽  
Vol 29 (1) ◽  
pp. 87-101 ◽  
Author(s):  
G. STAMATOYANNOPOULOS ◽  
TH. PAPAYANNOPOULOU ◽  
CHR. BAKOPOULOS ◽  
A. G. MOTULSKY
Keyword(s):  
Enzyme Assay ◽  
Enzyme Level ◽  
High Capacity ◽  
Mutant Gene ◽  
Test Results ◽  
Reduction Test ◽  
Heterozygote Detection ◽  
Normal Males ◽  
Enzyme Deficient ◽  
Genetically Determined

Abstract Heterozygotes for the Mediterranean type of severe G-6-PD deficiency were investigated by a variety of tests. The methemoglobin reduction test was most successful in detecting heterozygotes (about 80 per cent). Enumeration of methemoglobin containing cells on blood films (Kleihauer-Betke technic) did not improve these results. Quantitation of enzyme level was less successful (65 per cent), and determination of decolorization time by the BCB technic was least sensitive in heterozygote detection. Methemoglobin reduction technics reflect a more indirect effect of the mutant gene than enzyme assay. The superiority of these technics in heterozygote detection is probably caused by the genetically determined presence of both normal and enzyme-deficient cells in G-6-PD deficient heterozygotes. Since methemoglobin reduction is carried out by individual cells, the population of enzyme deficient cells does not reduce methemoglobin, and therefore even a minority of deficient cells leads to abnormal test results. In contrast, enzyme assay is less successful for heterozygote detection, since measurement of enzyme level is carried out on hemolyzed red cells, where cellular mosaicism no longer exists. An additional source of variation of enzyme levels in heterozygotes is caused by the existence of genetically determined control of normal enzyme level. Possession of a high capacity allele for G-6-PD activity may place a heterozygote in the normal range of enzyme activity. The various tests were also applied to subjects with the mild Greek type of G-6-PD deficiency. Males with this mutation had enzyme levels varying between 12-45 per cent of the mean of normal males. Methemoglobin reduction test results were considerably less abnormal in hemizygotes with the mild type of Mediterranean deficiency than in heterozygotes with the severe deficiency. Fewer heterozygotes with the mild deficiency were detected.

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