Biotinidase deficiency should be considered in individuals exhibiting myelopathy with or without and vision loss

Abstract Objectives Hypotonia, lethargy, eczema, alopecia, conjunctivitis, ataxia, hearing loss, optic atrophy, cognitive retardation, and seizures can occur in patients with biotinidase deficiency, and it is inherited as autosomal recessive. The aim of this study was to evaluate the cases followed up with the diagnosis of biotinidase deficiency in our unit, in terms of clinical, biochemical and genetic analyses. Methods A total of 112 cases followed up in our centre with the diagnosis of biotinidase deficiency between August 2018–September 2020 were included in the study. Data were collected retrospectively. Results A total of 112 cases (55.4% male, mean age: 2.2 ± 2.8 years) diagnosed with biotinidase deficiency were evaluated. Diagnoses were made by newborn screening in 90.2% of the cases, by family screening in 4.5%, and by investigating symptoms in 5.4%. The most frequently (27.5%) detected mutations were c.1330G>C (p.D444H)/c.1330G>C (p.D444H) homozygous mutation, followed by (13.0%) c.1330G>C (p.D444H)/c.470G>A (p.R157H) compound heterozygous mutation, and (13.0%) c.470G>A (p.R157H)/c.470G>A (p.R157H) homozygous mutation. Biotinidase enzyme levels were found to be higher in patients with the p.D444H homozygous mutation than patients with other mutations. Biotin treatment was started in all patients with enzyme deficiency. Conclusions Since the treatment is inexpensive and easily available, it is vital to detect this disease before symptom onset, especially findings related to the central nervous system, hearing and vision loss. In patients diagnosed with enzyme deficiency, the diagnosis should be definitively confirmed by genetic analysis.

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Biotinidase deficiency mimicking neuromyelitis optica: Initially exhibiting symptoms in adulthood

Multiple Sclerosis Journal ◽

10.1177/1352458515596457 ◽

2015 ◽

Vol 21 (12) ◽

pp. 1604-1607 ◽

Cited By ~ 30

Author(s):

Laure Bottin ◽

Sabine Prud’hon ◽

Stéphanie Guey ◽

Claire Giannesini ◽

Barry Wolf ◽

...

Keyword(s):

Neuromyelitis Optica ◽

Optic Neuropathy ◽

Vision Loss ◽

Biotinidase Deficiency ◽

Emission Tomography ◽

Neurological Deficits ◽

Older Children ◽

Delayed Onset ◽

First Case ◽

Positron Emission

Background: Children with untreated biotinidase deficiency can experience variable symptoms depending on their age of presentation. Older children and adolescents can exhibit predominant neurological deficits including para- or tetraparesis and vision loss. Methods: We report the first case of delayed-onset biotinidase deficiency in a young adult. Results: A 22-year-old man presented with a disabling extensive myelopathy and bilateral optic neuropathy which mimicked the findings of a (seronegative) neuromyelitis optica. Imaging investigations were characterized by an MRI T2 hyper-intensity involving the spinal cord, the optic nerves, the fornix and the mammillar bodies, together with an increased 18F-FDG uptake on positron emission tomography. He was ultimately shown to have profound biotinidase deficiency due to a novel missense mutation and was partly improved by oral biotin therapy. Conclusion: This individual exemplifies the need to include biotinidase deficiency in the differential diagnosis of patients with extensive myelopathy and/or bilateral optic neuropathy and argues for newborn screening for the disorder.

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Unexplained Vision Loss Can Stem From Effects of Intestinal Surgery

Internal Medicine News ◽

10.1016/s1097-8690(06)74649-2 ◽

2006 ◽

Vol 39 (24) ◽

pp. 27

Author(s):

Heidi Splete

Keyword(s):

Vision Loss ◽

Intestinal Surgery

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Diabetes cases skyrocket across the country, leading to record vision loss

PsycEXTRA Dataset ◽

10.1037/e562712009-003 ◽

2007 ◽

Keyword(s):

Vision Loss

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FDA: Vision Loss Reported With ED Drug Use

Family Practice News ◽

10.1016/s0300-7073(05)71571-1 ◽

2005 ◽

Vol 35 (16) ◽

pp. 47

Author(s):

Kerri Wachter

Keyword(s):

Drug Use ◽

Vision Loss

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Assessment of Knowledge and Practice of Various Eye Diseases in Sulaimani: A Descriptive Study

Kurdistan Journal of Applied Research ◽

10.24017/science.2018.2.1 ◽

2018 ◽

pp. 1-6

Author(s):

Abdulrahman M. Ibrahem ◽

Salah Q. Mahmood ◽

Muhammed Babakir-Mina ◽

Salar Ibrahim Ali ◽

Bakhtyar Kamal Talabany

Keyword(s):

Vision Loss ◽

Good Practice ◽

Study Data ◽

Eye Diseases ◽

Vision Impairment ◽

P Value ◽

Published Data ◽

Knowledge Level ◽

Cross Sectional ◽

Knowledge And Practice

Knowledge and practice of public, especially patients about eye diseases are important to reduce magnitude of human blindness. Vision and sight are very essential because they allow us to connect to each other’s. In accordance to the recently published data; the estimation of 253 million people lives with vision impairment, 36 million are blind and 217 million suffer from moderate to severe vision impairment. A descriptive cross-sectional study was conducted at Shahid Dr. Aso Hospital in Sulaimani city-Iraq, from April to August 2017 by face-to-face interview through close ended questionnaire for data collecting. All data were analyzed by Statistical Package for Social Sciences version 22.0 software. P-value of < 0.05 was considered as a statistically significant. A total of 430 patients were randomly chosen to participate in the study. They were 254 (59.1%) males and 176 (40.9%) females. 76.7% of respondents was worrying about vision loss, 0.7% was worrying about hair loss. Of the participants, 32.8% was with a good knowledge level and 40.5% was with a poor knowledge level, as well as 3.1% was in a good practice and 58.8% was in a poor practice level. Female knowledge mean score was 9.53±4.96 and male knowledge mean score was 8.42±5.45, the practice mean score of males was 4.33±1.96 and mean practice score of females was 4.13±1.93. The study data indicate the worrying of participates about vision loss is in the highest proportion and the awareness and practice of patients about eye diseases is unsatisfactory. Health education campaigns are needed to improve personal awareness about vision related problems and for better eye health.

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