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.

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 Surgical Management of Pediatric Gastroesophageal Reflux Disease

2013 ◽  
Vol 2013 ◽  
pp. 1-8 ◽  
Author(s):  
Hope T. Jackson ◽  
Timothy D. Kane
Keyword(s):  
Gastroesophageal Reflux Disease ◽  
Gastroesophageal Reflux ◽  
Surgical Management ◽  
Reflux Disease ◽  
Clinical Presentation ◽  
Pediatric Population ◽  
Treatment Options ◽  
Failure To Thrive ◽  
Solid Diet ◽  
Esophageal Sphincter

Gastroesophageal reflux (GER) is common in the pediatric population. Most cases represent physiologic GER and as the lower esophageal sphincter (LES) matures and a solid diet is introduced, many of these patients (>65%) experience spontaneous resolution of symptoms by two years of age. Those who continue to have symptoms and develop complications such as failure to thrive, secondary respiratory disease, and others are classified as having gastroesophageal reflux disease (GERD). Goals of GERD treatment include the resolution of symptoms and prevention of complications. Treatment options to achieve these goals include dietary or behavioral modifications, pharmacologic intervention, and surgical therapy. This paper will review the clinical presentation of GERD and discuss options for surgical management and outcomes in these patients.

Diagnostic Utility of Lower Extremity Radiographs of Young Children With Gait Disturbance

PEDIATRICS ◽  
1991 ◽  
Vol 87 (2) ◽  
pp. 138-140
Author(s):  
Steven D. Blatt ◽  
Bruce M. Rosenthal ◽  
Douglas C. Barnhart
Keyword(s):  
Lower Extremity ◽  
Failure To Thrive ◽  
Gait Disturbance ◽  
Diagnostic Utility ◽  
Duration Of Symptoms ◽  
Soft Tissue Swelling ◽  
Chief Complaints ◽  
The Mean ◽  
Limiting Condition

The diagnostic utility of lower extremity radiographs was evaluated using 84 outpatients 1 to 5 years of age with gait disturbance whose lower extremities appeared physically normal. Chief complaints included limp (65 children [77%]), refusal to walk or stand (37 children [44%]), and frequent falling (6 children [7%]). A total of 43 children (51%) had more than one complaint. The mean age of patients was 26 months and the median duration of symptoms was 1 day. Trauma was reported in 43 (51%) cases and fever in 14 (17%). Results of radiographical studies appeared normal in 81 children (96%), demonstrated soft tissue swelling in 2 children, and revealed a bony island in 1 child. In 1 patient admitted to the hospital for failure to thrive and irritability, and whose radiographic results appeared normal, findings consistent with osteomyelitis later developed. Of the remaining children, 68 (81%) were available for follow-up observation 4 to 28 months after the initial visit and all reported spontaneous resolution of the initial complaint. It was concluded that in a well-appearing child with an otherwise normal physical examination results, an acute gait disturbance is likely to be a self-limiting condition and radiographs are unlikely to contribute to the diagnosis.

Gas-chromatographic method of analysis for urinary organic acids. II. Description of the procedure, and its application to diagnosis of patients with organic acidurias.

1980 ◽  
Vol 26 (13) ◽  
pp. 1847-1853 ◽  
Author(s):  
K Tanaka ◽  
A West-Dull ◽  
D G Hine ◽  
T B Lynn ◽  
T Lowe
Keyword(s):  
Organic Acids ◽  
Chromatographic Method ◽  
Normal Subjects ◽  
Retention Indices ◽  
Organic Aciduria ◽  
Organic Acidurias ◽  
Urinary Organic Acids ◽  
Urinary Organic Acid Analysis ◽  
Gas Chromatographic Method ◽  
Extensive List

Abstract A gas-chromatographic method for urinary organic acid analysis is described, designed to be used routinely for the diagnosis of organic aciduria. It involves extraction of urine with ethyl acetate, dehydration of extract residues, and trimethylsilylation. Organic acids are identified by using an extensive list of retention indices published in the accompanying paper (this issue). Quantitative values are given for organic acids in urines from 50 ostensibly normal subjects. Typical chromatograms of urinary organic acids from patients with eight well-established organic acidurias are also shown.

Report of the Canadian Expert Committee on the management of ADA deficiency

2020 ◽  
Vol 7 (3) ◽  
pp. 109-115
Author(s):  
Rae Brager ◽  
Parwinder Gill ◽  
Alison Haynes ◽  
Kyla Hildebrand ◽  
Vy H.D. Kim ◽  
...  
Keyword(s):  
Nk Cell ◽  
Fungal Infections ◽  
Severe Combined Immunodeficiency ◽  
Treatment Algorithm ◽  
Failure To Thrive ◽  
Expert Committee ◽  
Hematopoietic Stem ◽  
Enzyme Replacement ◽  
Cell Subpopulations ◽  
Partial Deficiency

Adenosine deaminase (ADA) deficiency is a form of severe combined immunodeficiency. Aberrant mutations in the ADA gene result in loss of ADA activity and the toxic accumulation of metabolites that damage both immune and non-immune organs. While patients with complete ADA deficiency present during infancy with failure to thrive, recurrent bacterial, viral and fungal infections, those with incomplete (partial) deficiency may present at a later age with milder symptoms associated with reduced T, B, and NK cell subpopulations. Based on experience in Canadian centres, we provide management guidelines for patients with ADA deficiency, including a treatment algorithm for use of hematopoietic stem cell transplantation, gene therapy, and enzyme replacement therapy. Statement of novelty: Herein, we define guidelines for the management and treatment of patients with ADA deficiency.

Characterization of Planned and Unplanned 30-Day Readmissions Following Vascular Surgical Procedures

2016 ◽  
Vol 51 (1) ◽  
pp. 17-22 ◽  
Author(s):  
Georges Tahhan ◽  
Alik Farber ◽  
Nishant K. Shah ◽  
Brianna M. Krafcik ◽  
Teviah E. Sachs ◽  
...  
Keyword(s):  
High Risk ◽  
Lower Extremity ◽  
Vascular Surgery ◽  
Resource Utilization ◽  
Failure To Thrive ◽  
Surgical Site Infections ◽  
Bleeding Complications ◽  
Chronic Obstructive ◽  
Dialysis Access ◽  
Discharge Data

Objective: Thirty-day readmission is increasingly used as a quality of care indicator. Patients undergoing vascular surgery have historically been at high risk for readmission. We analyzed hospital readmission details to identify patients at high risk for readmission in order to better understand these readmissions and improve resource utilization in this patient population. Methods: A retrospective review and analysis of our medical center’s admission and discharge data were conducted from October 2012 to March 2015. All patients who were discharged from the vascular surgery service and subsequently readmitted as an inpatient within 30 days were included. Results: We identified 649 vascular surgery discharges with 135 (21%) readmissions. Common comorbidities were diabetes (56%), coronary artery disease (40%), congestive heart failure (CHF; 24%), and chronic obstructive pulmonary disease (19%). Index vascular operations included open lower extremity procedures (39%), diagnostic angiograms (35%), endovascular lower extremity procedures (16%), dialysis access procedures (7%), carotid/cerebrovascular procedures (7%), amputations (6%), and abdominal aortic procedures (5%). Average index length of stay (LOS) was 7.48 days (±6.73 days). Reasons for readmissions were for medical causes (43%), surgical complications (35.5%), and planned procedures (21.5%). Reasons for medical readmissions most commonly included malaise or failure to thrive (28%), unrelated infection (24%), and hypoxia/CHF complications (21%). Common surgical causes for readmission were surgical site infections (69%), graft failure (19%), and bleeding complications (8%). Of the planned readmissions, procedures were at the same site (79%), a different site (14%), and planned podiatry procedures (7%). Readmission LOS was on average 7.43 days (±7.22 days). Conclusion: Causes for readmission of vascular surgery patients are multifactorial. Infections, both related and unrelated to the surgical site, remain common reasons for readmission and represent an opportunity for improvement strategies. Improved understanding of readmissions following vascular surgery could help adjust policy benchmarks for targeted readmission rates and help reduce resource utilization.

Severe failure-to-thrive and nonlipid-storage myopathy as presentation of short-chain acyl-coenzyme a dehydrogenase deficiency

1994 ◽  
Vol 11 (2) ◽  
pp. 132-133
Author(s):  
Tally Lerman-Sagie ◽  
Douglas Anthony ◽  
Frances E. Dougherty ◽  
Paul A. Rufo ◽  
Samuel Nurko ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Coenzyme A ◽  
Failure To Thrive ◽  
Short Chain ◽  
Chain Acyl ◽  
Acyl Coenzyme A

Rumination Syndrome

1982 ◽  
Vol 3 (8) ◽  
pp. 246-246
Keyword(s):  
Differential Diagnosis ◽  
Gastroesophageal Reflux ◽  
Congenital Adrenal Hyperplasia ◽  
Pyloric Stenosis ◽  
Early Life ◽  
Failure To Thrive ◽  
Maternal Deprivation ◽  
Adrenal Hyperplasia ◽  
Rumination Syndrome

Voluntary (?) regurgitation of food, called rumination, has its onset as early as the second month of life, but generally is seen in infants 6 to 8 months old. Failure to thrive may be a consequence. A psychosomatic basis is frequently implicated with maternal deprivation being the major presumed etiology. Rumination does not usually occur when the infant is observed unless he is undistracted; the child's pleasure and satisfaction with regurgitation is often noted. Reestablishment of effective and consistent mothering is the most reliable therapy. The differential diagnosis includes gastroesophageal reflux and its associated peculiar posturing (Sandifer syndrome). Gastroesophageal reflux usually presents with symptoms beginning in the first month of life as do pyloric stenosis and congenital adrenal hyperplasia, other causes of vomiting in early life.(R.H.R.)

Screening for Biotinidase Deficiency in Newborns: Worldwide Experience

PEDIATRICS ◽  
1990 ◽  
Vol 85 (4) ◽  
pp. 512-517
Author(s):  
Barry Wolf ◽  
Gregory S. Heard
Keyword(s):  
Normal Activity ◽  
The United States ◽  
Biotinidase Deficiency ◽  
Activity Level ◽  
West Germany ◽  
Activity Levels ◽  
Screening Programs ◽  
Live Births ◽  
Pilot Programs ◽  
Partial Deficiency

Between January 24, 1984, and December 31, 1988, 29 screening programs for biotinidase deficiency in newborns were established in 12 countries, and 4 396 834 newborns were screened. The worldwide incidence is based on screening programs in Australia, Austria, Canada, Italy, Japan, Mexico, New Zealand, Scotland, Spain, Switzerland, The United States, and West Germany. Biotinidase deficiency was detected in 72 newborns; 32 had profound biotinidase deficiency (&lt;10% of mean normal activity level) and 40 had partial deficiency (10% to 30% of mean normal activity level). The combined incidence of profound and partial deficiency was 1 case per 61 067 live births (1:49 500 to 1:79 544; 95% confidence interval), the estimated frequency of the recessive allele was 0.0040, and the frequency of heterozygosity was estimated to be 1:123. Profound deficiency occurred in 1 per 137 401 live births (1:109 300 to 1:211 200), and partial deficiency in 1 per 109 921 live births (1:86 600 to 1:159 700). Most available parents of children with profound and partial deficiency had biotinidase activity levels intermediate between zero and mean normal activity levels. Six children with profound dificiency were symptomatic at, or soon after, the time of diagnosis; no infant with partial deficiency has become symptomatic, but little is known about the natural history of infants with partial deficiency. Most children whose biotinidase deficiency was detected by newborn screening were white, one was black, and one Hispanic; biotinidase deficiency has not been detected in Oriental children. Although 8 pilot programs have terminated, 21 will continue either indefinitely or until predetermined targets are reached, and 3 new programs were scheduled to begin in January 1989. Each state, region, and country must decide whether screening for biotinidase deficiency should be added to its existent program based on the various advantages of screening, the incidence, the availability of resources, and priorities.

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