D-bifunctional protein deficiency: A case report of a Turkish child

İncecik, Faruk; Mungan, Neslihan

doi:10.4103/aian.aian_273_18

Cited by 3 publications

(3 citation statements)

References 10 publications

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“…Since first described by Watkins et al in 1989, 5 there have been very few reports about DBP deficiency and its management. 1 6 7 8 9 10 11 12 Our patient was brought to the medical attention due to generalized hypotonia, clubfoot, and craniofacial dysmorphism at birth. Although chromosome microarray is considered a first-tier test for such symptoms, 13 metabolic work-up including serum VLCFAs must be included for distinguishing the inborn error metabolism which show a facial dysmorphism and neurologic progression.…”

Section: Discussionmentioning

confidence: 98%

“…Recent reports showed early diagnosis of children with DBP deficiency using clinical exome sequencing despite their ambiguous manifestations. 9 10 11 12 Genotypes including missense, nonsense, or deletion mutations and locations of exon could help predict the prognosis of the patient. 2 Our patient had missense mutations located in exons 6 and 12 and the DBP type III phenotype.…”

Section: Discussionmentioning

confidence: 99%

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First Case of Peroxisomal D-bifunctional Protein Deficiency with Novel HSD17B4 Mutations and Progressive Neuropathy in Korea

Bae

Lim

et al. 2020

J Korean Med Sci

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Peroxisomal D-bifunctional protein (DBP), encoded by the HSD17B4 gene, catalyzes β-oxidation of very long chain fatty acids (VLCFAs). The deficiency of this peroxisomal enzyme leads to the accumulation of VLCFAs, causing multisystemic manifestations including the brain, retina, adrenal gland, hearing, and skeletal system. Herein, we report the first Korean neonatal case of peroxisomal DBP deficiency and the clinical prognosis over 2 years. This patient showed craniofacial dysmorphism, club foot, and seizures with cyanosis one day after birth. Elevated VLCFAs levels were indicative of a peroxisomal disorder. Targeted exome sequencing was performed and two missense mutations p.Asp117Val and p.Phe279Ser in the HSD17B4 gene were identified. The patient had type III DBP deficiency; therefore, docosahexaenoic acid and non-soluble vitamins were administered. However, progressive nystagmus, optic nerve atrophy, and bilateral hearing defects were observed and follow-up brain imaging revealed leukodystrophy and brain atrophy. Multiple anti-epileptic drugs were required to control the seizures. Over two years, the patient achieved normal growth with home ventilation and tube feeding. Hereby, the subject's parents had support during the second pregnancy from the proven molecular information. Moreover, targeted exome sequencing is an effective diagnostic approach, considering genetic heterogeneity of Zellweger spectrum disorders.

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Section: Discussionmentioning

confidence: 98%

Section: Discussionmentioning

confidence: 99%

First Case of Peroxisomal D-bifunctional Protein Deficiency with Novel HSD17B4 Mutations and Progressive Neuropathy in Korea

Bae

Lim

et al. 2020

J Korean Med Sci

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“…Diskussion Die D-bifunktionelle Protein-Defizienz ist eine seltene autosomal rezessive Erbkrankheit 4 5 . Analog zu unserem Fall sind typische Befunde eine Muskelhypotonie, zerebrale Anfälle und kraniofaziale Pathologien.5 Das klinische Bild variiert 6 7 8 9 . In der Literatur finden sich allerdings keine Berichte über Begleitthrombosen wie im vorgestellten Fall.…”

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Therapierefraktäre zerebrale Anfälle bei einem Neugeborenen aufgrund einer D-bifunktionellen Protein-Defizienz (Pseudo-Zellweger-Syndrom) – Fallbericht

Müller,

Köpke,

Anbar

et al. 2023

Zeitschrift Für Geburtshilfe Und Neonatologie

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D-Bifunctional Protein Deficiency Diagnosis—A Challenge in Low Resource Settings: Case Report and Review of the Literature

Ognean,

Mutică,

Vișa

et al. 2024

IJMS

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D-bifunctional protein deficiency (D-BPD) is a rare, autosomal recessive peroxisomal disorder that affects the breakdown of long-chain fatty acids. Patients with D-BPD typically present during the neonatal period with hypotonia, seizures, and facial dysmorphism, followed by severe developmental delay and early mortality. While some patients have survived past two years of age, the detectable enzyme activity in these rare cases was likely a contributing factor. We report a D-BPD case and comment on challenges faced in diagnosis based on a narrative literature review. An overview of Romania’s first patient diagnosed with D-BPD is provided, including clinical presentation, imaging, biochemical, molecular data, and clinical course. Establishing a diagnosis can be challenging, as the clinical picture is often incomplete or similar to many other conditions. Our patient was diagnosed with type I D-BPD based on whole-exome sequencing (WES) results revealing a pathogenic frameshift variant of the HSD17B4 gene, c788del, p(Pro263GInfs*2), previously identified in another D-BPD patient. WES also identified a variant of the SUOX gene with unclear significance. We advocate for using molecular diagnosis in critically ill newborns and infants to improve care, reduce healthcare costs, and allow for familial counseling.

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D-bifunctional protein deficiency: A case report of a Turkish child

Cited by 3 publications

References 10 publications

First Case of Peroxisomal D-bifunctional Protein Deficiency with Novel HSD17B4 Mutations and Progressive Neuropathy in Korea

First Case of Peroxisomal D-bifunctional Protein Deficiency with Novel HSD17B4 Mutations and Progressive Neuropathy in Korea

Therapierefraktäre zerebrale Anfälle bei einem Neugeborenen aufgrund einer D-bifunktionellen Protein-Defizienz (Pseudo-Zellweger-Syndrom) – Fallbericht

D-Bifunctional Protein Deficiency Diagnosis—A Challenge in Low Resource Settings: Case Report and Review of the Literature

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