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 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.

Partial Methylcrotonyl-Coenzyme A Carboxylase Deficiency in an Infant With Failure to Thrive, Gastrointestinal Dysfunction, and Hypertonia

PEDIATRICS ◽  
1993 ◽  
Vol 91 (3) ◽  
pp. 664-666
Author(s):  
MENDEL TUCHMAN ◽  
SUSAN A. BERRY ◽  
LE PHUC THUY ◽  
WILLIAM L. NYHAN
Keyword(s):  
Gastroesophageal Reflux ◽  
Lower Extremity ◽  
Coenzyme A ◽  
Oral Candidiasis ◽  
Failure To Thrive ◽  
Biotinidase Deficiency ◽  
Organic Aciduria ◽  
Gastrointestinal Dysfunction ◽  
Urinary Organic Acids ◽  
Partial Deficiency

Analysis of urinary organic acids will occasionally detect an unexpected metabolic abnormality reflecting an enzyme deficiency in a child with a nonspecific phenotype. We recently found an infant with failure to thrive, gastroesophageal reflux and vomiting, diarrhea, oral candidiasis and lower extremity hypertonia to have a mild organic aciduria of methylcrotonylglycine and 3-hydroxyisovaleric acid unresponsive to pharmacological doses of biotin. Most patients with methylcrotonylglycinuria have defects in biotin metabolism affecting biotin-dependent carboxylase enzymes such as holocarboxylase synthase or biotinidase deficiency and are responsive to biotin administration.1 Enzymatic investigations in the patient described below revealed an isolated partial deficiency of 3-methylcrotonyl-coenzyme A (CoA) carboxylase (MCC) (EC 6.4.1.4) (McKusick 21020) which is biotin resistant, a very rare disorder of leucine degradation.

Single center experience of biotinidase deficiency: 259 patients and six novel mutations

2018 ◽  
Vol 31 (8) ◽  
pp. 917-926 ◽  
Author(s):  
Ebru Canda ◽  
Havva Yazici ◽  
Esra Er ◽  
Melis Kose ◽  
Gunes Basol ◽  
...  
Keyword(s):  
Enzyme Activity ◽  
Gene Mutations ◽  
Biotinidase Deficiency ◽  
Common Mutation ◽  
Novel Mutations ◽  
Laboratory Findings ◽  
Western Turkey ◽  
Single Center Experience ◽  
Number Of Patients ◽  
Partial Deficiency

Abstract Background Biotinidase deficiency (BD) is an autosomal recessively inherited disorder of biotin recycling. It is classified into two levels based on the biotinidase enzyme activity: partial deficiency (10%–30% enzyme activity) and profound deficiency (0%–10% enzyme activity). The aims of this study were to evaluate our patients with BD, identify the spectrum of biotinidase (BTD) gene mutations in Turkish patients and to determine the clinical and laboratory findings of our patients and their follow-up period. Methods A total of 259 patients who were diagnosed with BD were enrolled in the study. One hundred and forty-eight patients were male (57.1%), and 111 patients were female (42.9%). Results The number of patients detected by newborn screening was 221 (85.3%). By family screening, 31 (12%) patients were diagnosed with BD. Seven patients (2.7%) had different initial complaints and were diagnosed with BD. Partial BD was detected in 186 (71.8%) patients, and the profound deficiency was detected in 73 (28.2%) patients. Most of our patients were asymptomatic. The most commonly found variants were p.D444H, p.R157H, c.98_104delinsTCC. The novel mutations which were detected in this study are p.D401N(c.1201G>A), p.A82G (c.245C>G), p.F128S(c.383T>C), c617_619del/TTG (p.Val207del), p.A287T(c.859G>A), p.S491H(c.1471A>G). The most common mutation was p.R157H in profound BD and p.D444H in partial BD. All diagnosed patients were treated with biotin. Conclusions The diagnosis of BD should be based on plasma biotinidase activity and molecular analysis. We determined the clinical and genetic spectra of a large group of patients with BD from Western Turkey. The frequent mutations in our study were similar to the literature. In this study, six novel mutations were described.

An Unusual Case of Severe Anion Gap Metabolic Acidosis in a 3-year-old Girl

2021 ◽  
Vol 42 (Supplement 1) ◽  
pp. S46-S51
Author(s):  
Ryan M. Fredericks ◽  
George Sam Wang ◽  
Christine U. Vohwinkel ◽  
Jessica Kraynik Graham
Keyword(s):  
Metabolic Acidosis ◽  
Unusual Case ◽  
Anion Gap

Use of Molecular Biology to Confirm a Bacteremia Outbreak Caused by Burkholderia Cepacia in a Pediatric Intensive Care Unit

2012 ◽  
Vol 40 (5) ◽  
pp. e113
Author(s):  
Hilda G. Hernandez Orozco ◽  
Genny Sanchez ◽  
Miguela Caniza ◽  
Don Guimera ◽  
Jhonson M. Kyle ◽  
...  
Keyword(s):  
Intensive Care Unit ◽  
Intensive Care ◽  
Molecular Biology ◽  
Pediatric Intensive Care Unit ◽  
Burkholderia Cepacia ◽  
Pediatric Intensive Care

3-Methylglutaconic Aciduria: A New Variant

PEDIATRICS ◽  
1992 ◽  
Vol 89 (6) ◽  
pp. 1080-1082
Author(s):  
Avraham Zeharia ◽  
Orly N. Elpeleg ◽  
Masza Mukamel ◽  
Raphael Weitz ◽  
Raya Ariel ◽  
...  
Keyword(s):  
Enzyme Activity ◽  
School Performance ◽  
Speech Development ◽  
Favorable Prognosis ◽  
Mild Developmental Delay ◽  
New Variant ◽  
Clinical Variant ◽  
Normal Enzyme ◽  
Second Year ◽  
Methylglutaconic Aciduria

3-Methylglutaconic aciduria has been described in two distinct syndromes. In one there was deficient 3-methylglutaconyl coenzyme A hydratase in fibroblast extracts where the only clinical manifestation was retarded speech development. In the second syndrome, the enzyme activity was normal but prominent neurological deterioration was noted. We describe two siblings with 3-methylglutaconic aciduria with normal enzyme activity who had choreoathetoid movements, optic atrophy, and mild developmental delay. The boy demonstrated developmental improvement in his second year of life, and his sister developed well, with normal school performance. These patients represent a new clinical variant of the second syndrome with a relatively favorable prognosis.

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