Fructose-1,6-bisphosphatase deficiency caused by a novel homozygous Alu element insertion in the FBP1 gene and delayed diagnosis

2017 ◽  
Vol 30 (6) ◽  
pp. 703-706
Author(s):  
Somashekara Hosaagrahara Ramakrishna ◽  
Siddaramappa Jagdish Patil ◽  
Anusha Aladakatte Jagadish ◽  
Anil Kumar Sapare ◽  
Hiremath Sagar ◽  
...  
Keyword(s):  
Metabolic Disorders ◽  
Autosomal Recessive ◽  
Delayed Diagnosis ◽  
Female Child ◽  
Inherited Metabolic Disorders ◽  
Fructose 1,6 Bisphosphatase ◽  
Alu Element ◽  
First Time ◽  
Bisphosphatase Deficiency ◽  
Fbp1 Gene

AbstractFructose-1,6-bisphosphatase (FBPase) enzyme deficiency is one of the treatable autosomal recessive inherited metabolic disorders. If diagnosed early, FBPase deficiency has a favorable prognosis. We report the clinical and biochemical findings of a 9.5-year-old female child with FBPase deficiency. FBPase deficiency is caused by a homozygousArthrobacter luteus (Alu)insertion in theFBP1gene, reported for the first time.

A rare case of fructose-1,6-bisphosphatase deficiency: a delayed diagnosis story

2020 ◽  
Vol 45 (5) ◽  
pp. 613-616
Author(s):  
Mahmut Cerkez Ergoren ◽  
Gulten Tuncel ◽  
Sebnem Ozemri Sag ◽  
Sehime Gulsun Temel
Keyword(s):  
Genetic Disorder ◽  
Delayed Diagnosis ◽  
Illumina Miseq ◽  
Sequencing Analysis ◽  
Sequencing Data ◽  
Exon 2 ◽  
Delay In Diagnosis ◽  
Fructose 1,6 Bisphosphatase ◽  
Bisphosphatase Deficiency ◽  
Fbp1 Gene

AbstractObjectivesFructose-1,6-bisphosphatase deficiency (FBPase deficiency, OMIM 229700) is an early-onset rare genetic disorder caused by mutations in the FBP1 gene.Case presentationOur patient was 17-years-old when she was diagnosed with the disease. Initial sequencing analysis with Ion Torrent technology failed to detect the gross deletion that covered complete exon 2 (c.-24-26_170 + 5192del) of FBP1 gene and caused the delay in diagnosis. Deletion was then detected when sequencing was performed in an Illumina MiSeq platform.ConclusionsThis case emphasizes the importance of sequencing data analysis for precise diagnosis of rare diseases and therapy planning.

Novel FBP1 gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiency

2009 ◽  
Vol 168 (12) ◽  
pp. 1467-1471 ◽  
Author(s):  
Muhammad Faiyaz-Ul-Haque ◽  
Mohammed Al-Owain ◽  
Fouad Al-Dayel ◽  
Zuhair Al-Hassnan ◽  
Hamad Al-Zaidan ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Fructose 1,6 Bisphosphatase ◽  
Bisphosphatase Deficiency ◽  
Fbp1 Gene

scholarly journals Early onset familial relapsing polyneuropathy, mimicking CIDP; A lesson from clinical genetics

2021 ◽  
Vol 62 (4) ◽  
pp. 128-131
Author(s):  
Nebal Wael Saadi
Keyword(s):  
Metabolic Disorders ◽  
Autosomal Recessive ◽  
Diagnostic Methods ◽  
Clinical Genetics ◽  
Case Presentation ◽  
Whole Exome ◽  
Immune Mediated ◽  
Inherited Metabolic Disorders ◽  
Demyelinating Peripheral Neuropathy ◽  
Infancy And Early Childhood

Background: In children, chronic immune-mediated neuropathies present with slowly progressive or relapsing episodes of gait difficulty, symmetric weakness and sometimes paraesthesia. Infancy and early childhood age of presentation and familial recurrence are believed to be atypical features. Case presentation: Herein, we describe two brothers from a non- consanguineous Iraqi family, who presented with episodes of acute immune-mediated demyelinating peripheral neuropathy in early infancy that relapsed recurrently. Mild haemolytic anaemia was also reported. Inherited metabolic disorders were suspected and Whole Exome Sequencing of the youngest brother revealed homozygous frame shift mutation in CD59 gene, confirming the diagnosis of autosomal recessive hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy (HACD59). Conclusion: The report highlights the advantage of genetic testing in such rare and inherited conditions. In the lack of necessary non-traditional diagnostic methods, it is substantial to maintain the accustomed medical practice and strategies, based on available clinical data.

Ketogenic diets in patients with inherited metabolic disorders

2015 ◽  
Vol 38 (4) ◽  
pp. 765-773 ◽  
Author(s):  
S. Scholl-Bürgi ◽  
A. Höller ◽  
K. Pichler ◽  
M. Michel ◽  
E. Haberlandt ◽  
...  
Keyword(s):  
Metabolic Disorders ◽  
Ketogenic Diets ◽  
Inherited Metabolic Disorders

INHERITED METABOLIC DISORDERS AND HEART DISEASES

2019 ◽  
Author(s):  
Vjekoslav Krželj ◽  
Ivana Čulo Čagalj
Keyword(s):  
Metabolic Disorders ◽  
Metabolic Diseases ◽  
Technological Development ◽  
Heart Diseases ◽  
Glycogen Storage ◽  
Acid Oxidation ◽  
Lysosomal Storage ◽  
Glycogen Storage Diseases ◽  
Coronary Diseases ◽  
Inherited Metabolic Disorders

Inherited metabolic disorders can cause heart diseases, cardiomyopathy in particular, as well as cardiac arrhythmias, valvular and coronary diseases. More than 40 different inherited metabolic disorders can provoke cardiomyopathy, including lysosomal storage disorders, fatty acid oxidation defects, organic acidemias, amino acidopathies, glycogen storage diseases, congenital disorders of glycosylation as well as peroxisomal and mitochondrial disorders. If identified and diagnosed on time, some of congenital metabolic diseases could be successfully treated. It is important to assume them in cases when heart diseases are etiologically undefined. Rapid technological development has made it easier to establish the diagnosis of these diseases. This article will focus on common inherited metabolic disorders that cause heart diseases, as well as on diseases that might be possible to treat.

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