Maple syrup urine disease: Characteristics of diagnosis and treatment in 45 patients in Chile

Medina, María Fernanda; Castro, G.; Falcón, Felipe; Cabello, Juan Francisco; Faundes, Víctor; Ruffato, Diana; Salazar, María Florencia; Arias, Carolina; Peñaloza, Felipe; Parra, Alicia de la; Cornejo, Verónica

doi:10.1002/ajmg.c.31933

Cited by 5 publications

(2 citation statements)

References 22 publications

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“…This treatment can prevent potential new brain injury and promote neural development. [13][14][15] The patient received liver transplantation, making her physical condition improved. Nevertheless, the disease still causes growth retardation which needs to be addressed by more advanced and sophisticated treatment programs.…”

Section: Discussionmentioning

confidence: 99%

Neonatal maple syrup urine disease case report and literature review

Liu

Zhou

et al. 2022

Medicine

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Rationale: The main clinical symptoms of maple syrup urine disease (MSUD) are dehydration, acidosis, nervous system symptoms and intellectual disability. The brain imaging findings were mainly caused by cytotoxic edema. The lesions usually occur at the site consistent with the myelination process of normal neonates. The distribution is mostly symmetric, and the diffusion is obviously limited. Patient concerns: Herein, we report a rare case of an 8-day-old female patient who presented with abnormal symptoms, such as difficulty eating, convulsions, slow reaction, difficulty in correcting hypoglycemia and severe metabolic disorders. Brain magnetic resonance imaging (MRI) revealed abnormal signal intensity mainly involving the brainstem, cervical spinal cord, bilateral cerebellar hemispheres, basal ganglia, thalamus, precentral gyrus, and postcentral gyrus with characteristic hyperintensity on diffusion-weighted imaging (DWI) sequence. MSUD is rarely reported, while cervical spinal cord involvement is extremely rare. Diagnoses: Blood tandem mass spectrometry, urine organic acid detection, and genetic disease overall genetic tests were performed to further confirm the diagnosis of MSUD. Interventions: Under general anesthesia, she underwent open surgical procedures for liver transplantation. Outcomes: The child was in a stable condition after liver transplantation, and the diet was not restricted. Lessons: MSUD in neonates is rare. Our case report and literature review was aim to describe the clinic and imaging characteristics of it, and highlight physicians must be aware of this entity in newborns so as to reduce misdiagnosis due to unfamiliarity.

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Section: Discussionmentioning

confidence: 99%

Neonatal maple syrup urine disease case report and literature review

Liu

Zhou

et al. 2022

Medicine

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“…Currently, there are 5 recognized phenotypes of MSUD: classical, intermediate, intermittent, thiamine-responsive, and E3-deficient types (Table 1 ) [ 1 , 7 , 11 ]. Symptoms and severity of MSUD vary greatly among affected patients depending on the exact type and the amount of residual enzymatic activity.…”

Section: Introductionmentioning

confidence: 99%

The oral phenotype and dental management in patients with maple syrup urine disease; case report and scoping review

Hassona,

Alqaisi,

Flaifl

et al. 2024

BMC Oral Health

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Background and objectives The literature about oral manifestations and dental management in maple syrup urine disease (MSUD) is sparse. The aim of this report is to present a new case of MSUD with special emphasis on oral findings and to review the relevant literature. Method A case report of a 4-year-old boy with MSUD was described according to the CARE guidelines for describing case reports. Scoping review of relevant literature was performed, according to the PRISMA-ScR guidelines, by searching PubMed, Medline, Embase, and the grey literature for articles describing dental management and/or oral manifestations in MSUD. Results The initial search identified 219 articles, but only 4 met the inclusion criteria. Rampant caries and plaque induced gingivitis were the main oro-dental findings in MSUD. Other oral findings included enamel hypoplasia, skeletal abnormalities, and abnormal oral behaviors. Disease-related factors appeared to play a major role in the development of the observed oral phenotype. Conclusion Oral health in MSUD seems to be influenced by the reliance on semi-synthetic diet and associated neurocognitive complications. Tailored oral health promotional interventions should be included in the multidisciplinary management of patients with MSUD.

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Identification of a novel homozygous mutation of the BCKDHB gene in an Iranian patient with maple syrup disease using next-generation sequencing

Lashkarian

Salmani

2023

Human Gene

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Maple syrup urine disease: Characteristics of diagnosis and treatment in 45 patients in Chile

Cited by 5 publications

References 22 publications

Neonatal maple syrup urine disease case report and literature review

Neonatal maple syrup urine disease case report and literature review

The oral phenotype and dental management in patients with maple syrup urine disease; case report and scoping review

Identification of a novel homozygous mutation of the BCKDHB gene in an Iranian patient with maple syrup disease using next-generation sequencing

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