scholarly journals An unusual presentation of biotinidase deficiency in infant: High anion gap metabolic acidosis

2021 ◽  
Vol 36 ◽  
pp. 57-59
Author(s):  
Pooja Shashidhar Wali ◽  
Preetham Tauro ◽  
Pavan Hegde ◽  
Habeeb Ullah Khan ◽  
M. D Jaidev
Keyword(s):  
Metabolic Acidosis ◽  
Early Diagnosis ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Biotinidase Deficiency ◽  
Unusual Presentation ◽  
Anion Gap ◽  
Morbidity And Mortality ◽  
Infantile Seizures

Biotinidase deficiency (BTD) is hereditary autosomal recessive disorder with higher morbidity and mortality if left untreated. We report this case to increase awareness about BTD, presenting with infantile seizures, encephalopathy with high anion gap metabolic acidosis, eczema and to emphasize the importance of early diagnosis in reversal of metabolic acidosis and seizures refractory to multiple anticonvulsants with biotin replacement.

Triple A syndrome: a case report

2020 ◽  
pp. 004947552096194
Author(s):  
Piyush Manoria
Keyword(s):  
Case Report ◽  
Early Diagnosis ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Morbidity And Mortality ◽  
Adrenal Failure ◽  
Triple A Syndrome ◽  
Rare Autosomal Recessive Disorder ◽  
High Degree

Triple A syndrome is a rare autosomal recessive disorder characterised by alacrimia, achalasia and adrenal failure. It was first reported by Allgrove in 1978 and 100 cases have been reported worldwide. This case report concerns a 24-year-old woman who was referred for evaluation of dysphagia and was finally diagnosed as such a case. A high degree of suspicion enables all the components of this syndrome to be searched for, as early diagnosis can reduce the morbidity and mortality.

scholarly journals Anion gap‐opening metabolic acidosis and urinary findings in the early diagnosis of ethylene glycol poisoning: A case report

2022 ◽  
Vol 10 (1) ◽  
Author(s):  
Kentaro Ukita ◽  
Kanako Otomune ◽  
Ryo Fujimoto ◽  
Kanako Hasegawa ◽  
Koichi Izumikawa ◽  
...  
Keyword(s):  
Case Report ◽  
Metabolic Acidosis ◽  
Early Diagnosis ◽  
Ethylene Glycol ◽  
Anion Gap ◽  
Ethylene Glycol Poisoning ◽  
Gap Opening

scholarly journals NECROSE CUTANEE REVELANT UN DEFICIT CONGENITAL EN PROTEINE C : A PROPOS DE 3 CAS

2021 ◽  
Vol 9 (03) ◽  
pp. 80-83
Author(s):  
S. Halouani ◽  
◽  
W. Kojmane ◽  
F. Hmami ◽  
S. Atmani ◽  
...  
Keyword(s):  
Early Diagnosis ◽  
Replacement Therapy ◽  
Disseminated Intravascular Coagulation ◽  
Skin Necrosis ◽  
Protein C ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Protein C Deficiency ◽  
Neonatal Skin ◽  
Protein C Activity

Neonatal skin necrosis in the context of a congenital homozygous protein C deficiency is a rare inherited autosomal recessive disorder, it is characterized by rapidly extensive necrotic patches occurring a few hours after birth in a newborn who doesnt present any hemodynamic disorder. The diagnosis is based on the assay of protein C activity which is collapsed or even undetectable. Early diagnosis and replacement therapy are the mainstays of management before the onset of disseminated intravascular coagulation. We report three cases of newborns presenting with DIC in the context of protein C deficiency and the course of which was fatal.

Cystic fibrosis

2018 ◽  
Author(s):  
Rowland J. Bright-Thomas ◽  
Andrew M. Jones
Keyword(s):  
Cystic Fibrosis ◽  
Gastrointestinal Tract ◽  
Reproductive System ◽  
Autosomal Recessive ◽  
Pulmonary Infection ◽  
Autosomal Recessive Disorder ◽  
Carrier State ◽  
Male Reproductive System ◽  
Morbidity And Mortality ◽  
Basic Defect

Cystic fibrosis is the most common lethal autosomal recessive disorder in Caucasians. There is no known survival advantage of the heterozygote carrier state. Chronic progressive pulmonary infection and bronchiectasis are the major causes of morbidity and mortality. The disease affects all ductal systems where the basic defect is manifest, including the pancreas, gastrointestinal tract, sinuses, hepatobiliary system, and male reproductive system, and has significant effects on nutrition and growth.

scholarly journals An unusual presentation of biotinidase deficiency in infant: High anion gap metabolic acidosis and Burkholderia cepacia sepsis

2019 ◽  
Vol 6 (4) ◽  
pp. 1771
Author(s):  
Ravi Sharma ◽  
Anupam Chaturvedi ◽  
Sandeep Yadav ◽  
Rateesh Sareen
Keyword(s):  
Enzyme Activity ◽  
Metabolic Acidosis ◽  
Burkholderia Cepacia ◽  
Pediatric Intensive Care ◽  
Biotinidase Deficiency ◽  
Organic Aciduria ◽  
Anion Gap ◽  
Normal Enzyme ◽  
Urinary Organic Acid Analysis ◽  
Partial Deficiency

Biotinidase deficiency (BD) is an inborn metabolic disorder caused by low enzyme activity giving rise to impaired biotin release from dietary proteins. The first symptoms may be seen at first week following birth until 1 year of age. The goal of the therapy is to increase biotin bioavailability by daily 5-20 mg lifelong biotin replacement. Three-month-old girl born to nonconsanguineous parents, admitted to pediatric intensive care with multiple seizures, breathing difficulty and posturing. Blood investigations showed thrombocytopenia and high anion gap metabolic acidosis (HAGMA). Enzyme assay for biotinidase revealed low activities. Urinary organic acid analysis was normal. Enzyme activity is <10% in severe cases whereas between 10-30% in partial deficiency. BD can cause metabolic ketoacidosis, Hyperammonemia and organic Aciduria. BD behaves like immunodeficiency. Rarely bacterial infection can be seen. Treatment is lifelong biotin replacement.

scholarly journals Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families

2015 ◽  
Vol 2015 ◽  
pp. 1-4
Author(s):  
Maria Valencia ◽  
Lara Tabet ◽  
Nadine Yazbeck ◽  
Alia Araj ◽  
Victor L. Ruiz-Perez ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Early Diagnosis ◽  
Autosomal Recessive ◽  
Medical Literature ◽  
Autosomal Recessive Disorder ◽  
Case Presentation ◽  
Homozygous Mutations ◽  
Ellis Van Creveld Syndrome ◽  
First Time

Background. Ellis-van Creveld (EvC) syndrome is a rare, autosomal recessive disorder characterized by short stature, short limbs, growth retardation, polydactyly, and ectodermal defects with cardiac anomalies occurring in around 60% of cases. EVC syndrome has been linked to mutations inEVCandEVC2genes.Case Presentation. We report EvC syndrome in two unrelated Lebanese families both having homozygous mutations in theEVC2gene, c.2653C>T (p.(Arg885*)) and c.2012_2015del (p.(Leu671*)) in exons 15 and 13, respectively, with the latter being reported for the first time.Conclusion. Although EvC has been largely described in the medical literature, clinical features of this syndrome vary. While more research is required to explore other genes involved in EvC, early diagnosis and therapeutic care are important to achieve a better quality of life.

scholarly journals Doss Porphyria (δ-Aminolevulinic Acid Dehydratase Porphyria) Presenting with Acute Onset Flaccid Paralysis

2016 ◽  
Vol 35 (3) ◽  
pp. 280-282
Author(s):  
Sandip Kumar Singh ◽  
Eva Gauchan ◽  
Deepak Prasad Koirala ◽  
KS Rao
Keyword(s):  
Early Diagnosis ◽  
Autosomal Recessive ◽  
Aminolevulinic Acid ◽  
Autosomal Recessive Disorder ◽  
Acute Onset ◽  
Motor Neuropathy ◽  
Prompt Treatment ◽  
Heme Synthesis ◽  
Acid Dehydratase ◽  
Bulbar Paralysis

δ–Aminolevulinic acid dehydratase porphyria is an autosomal recessive disorder of heme synthesis resulting from deficiency of δ-aminolevulinic acid dehydratase (ALAD). Patients present with fatal neurovisceral manifestations and motor neuropathy. Here we report a patient with rapidly progressive flaccid tetraplegia with respiratory and bulbar paralysis. The importance of early diagnosis, prompt treatment and screening of relatives is stressed.J Nepal Paediatr Soc 2015;35(3):280-282

scholarly journals Enteroendocrine Dysfunction in Two Saudi Sisters

2021 ◽  
pp. 290-295
Author(s):  
Amna Basheer M. Ahmed ◽  
Badr M. Rasheed Alsaleem
Keyword(s):  
Early Diagnosis ◽  
Effective Treatment ◽  
Early Onset ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Proprotein Convertase ◽  
Whole Exome ◽  
Osmotic Diarrhea ◽  
Symptoms And Signs

Proprotein convertase (PC) deficiency is a rare autosomal recessive disorder caused by mutations in proprotein convertase subtilisin/kexin type 1 (PCSK1). It is characterized by severe malabsorptive early-onset diarrhea, obesity, and systemic endocrinopathies. Only few cases have been reported in the literature; we have add two female sisters with some difference in clinical progress. Herein, we describe two sisters with congenital osmotic diarrhea diagnosed with PC1/3 deficiency, causing malabsorptive diarrhea and enteroendocrine dysfunction, who presented with chronic enteropathy with hypernatremia but with different expressivity. PC1/3 deficiency presents with symptoms and signs that mimic glucose-galactose malabsorption. Because of the clinical paucity and heterogeneity of congenital enteropathies, whole-exome sequencing may be of great help towards early diagnosis and effective treatment.

scholarly journals APRT deficiency: the need for early diagnosis

2018 ◽  
pp. bcr-2018-225742
Author(s):  
Aamira Huq ◽  
Kushma Nand ◽  
Rajiv Juneja ◽  
Ingrid Winship
Keyword(s):  
Early Diagnosis ◽  
Autosomal Recessive ◽  
Rare Condition ◽  
Autosomal Recessive Disorder ◽  
Signs And Symptoms ◽  
Kidney Donation ◽  
Shortness Of Breath ◽  
Adenine Phosphoribosyltransferase ◽  
Poorly Soluble ◽  
Aprt Deficiency

Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder which leads to accumulation of poorly soluble 2,8-dihydroxyadenine in kidneys resulting in nephrolithiasis as well as chronic kidney disease from crystal nephropathy. This report describes a 55-year-old previously fit man who presented with shortness of breath and the investigative pathway that eventually led to a diagnosis of APRT deficiency. Early diagnosis has aided in timely institution of allopurinol, thereby improving his renal function and possibility of weaning off renal replacement therapy. Genetic testing has enabled early identification of other family members at risk and prevention of renal failure by commencing xanthine oxidoreductase (XOR) inhibitors. The issues surrounding kidney donation by a member of this family are also discussed. This case represents the importance of awareness and recognition of the signs and symptoms of this rare condition, complications of which can be easily prevented by early institution of XOR inhibitor therapy.

Three Cases of Joubert Syndrome in a Consanguineous Syrian Family and a Interesting Case of Multinational Collaboration

2021 ◽  
Author(s):  
Davor Petrović ◽  
Vida Čulić ◽  
Zofia Swinderek-Alsayed
Keyword(s):  
Low Income ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Joubert Syndrome ◽  
Interesting Case ◽  
Low Income Countries ◽  
Ocular Motor ◽  
Quality Health Care ◽  
Quality Health ◽  
Motor Apraxia

AbstractJoubert syndrome (JS) is a rare congenital, autosomal recessive disorder characterized by a distinctive brain malformation, developmental delay, ocular motor apraxia, breathing abnormalities, and high clinical and genetic heterogeneity. We are reporting three siblings with JS from consanguineous parents in Syria. Two of them had the same homozygous c.2172delA (p.Trp725Glyfs*) AHI1 mutation and the third was diagnosed prenatally with magnetic resonance imaging. This pathogenic variant is very rare and described in only a few cases in the literature. Multinational collaboration could be of benefit for the patients from undeveloped, low-income countries that have a low-quality health care system, especially for the diagnosis of rare diseases.

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