Diagnosis and Treatment of Maple Syrup Disease: A Study of 36 Patients

Morton, D. Holmes; Strauss, Kevin A.; Robinson, Donna L.; Puffenberger, Erik G.; Kelley, Richard I.

doi:10.1542/peds.109.6.999

Cited by 273 publications

(219 citation statements)

References 26 publications

Supporting

Mentioning

204

Contrasting

Unclassified

Order By: Relevance

“…A deficiency of this enzyme causes MSUD and inhibits the entry of the branched chain amino acids into gluconeogenesis through Krebs cycle. Affected Infants develop vomiting, lethargy, hypoglycaemia, metabolic acidosis and seizures by first week of life [65]. The urine smell of maple syrup, elevated plasma and urine levels of branch chain amino acids will make the diagnosis.…”

Section: Hereditary Defects In Amino Acid Metabolism Maple Syrup Urinmentioning

confidence: 99%

Genetic Disorders Leading to Hypoglycaemia

Suresh¹,

Yap²,

Hussain³

2013

J Genet Syndr Gene Ther

View full text Add to dashboard Cite

Hypoglycaemia is common in clinical practice and can be a manifestation of many underlying conditions. It is a biochemical finding and not a diagnosis. Therefore an understanding of the molecular mechanisms that lead to hypoglycaemia is important. At a genetic level, hypoglycaemia can be due to many different genetic disorders both metabolic and endocrine. Some of these genetic disorders present with severe and profound hypoglycaemia in the newborn period yet others can be mild and subtle. Recent advances in the fields of genomics and molecular biology have begun to give fundamental novel insights into the mechanisms regulating blood glucose levels. This state of the art review article will provide an in-depth knowledge into the genetic mechanisms that lead to hypoglycaemia.

show abstract

Section: Hereditary Defects In Amino Acid Metabolism Maple Syrup Urinmentioning

confidence: 99%

Genetic Disorders Leading to Hypoglycaemia

Suresh¹,

Yap²,

Hussain³

2013

J Genet Syndr Gene Ther

View full text Add to dashboard Cite

show abstract

“…At age 4-5 days lethargy, apneia, opisthotonus and stereotyped movements occur; followed by coma and central respiratory failure at age 7-10 days. High protein ingestion or any cause of enhanced catabolism like infection, injury or surgery, can lead to acute leucine intoxication with cerebral oedema and neurological impairment (Morton et al, 2002). In less severe cases, patients reveal normal or moderately retarded neurodevelopment, later presenting with metabolic crises similar to classic MSUD.…”

Section: Maple Syrup Urine Diseasementioning

confidence: 99%

Neuroimaging in Inborn Errors of Metabolism

Casimiro¹,

Garcia²,

Cordeiro³

et al. 2012

Neuroimaging - Clinical Applications

View full text Add to dashboard Cite

Section: Fig 1 Axial -T2-weighted [A-c] Diffusion-weighted [D-f] Amentioning

confidence: 99%

“…The unfavorable outcome in children with MSUD is consistently bad when the disease is diagnosed after 14 days 1,12 . According to Morton et al 12 the prolonged deficiencies of one or more of the amino acids caused by excessive dietary restriction causes anemia and immunodeficiency, as well as dysmyelination, poor head growth and overall developmental delays. These authors also mentioned that the brain edema and hyponatremia were associated with hypersignals on T2-weighted MRI throughout the deep gray matter, different to what was observed in our case in which the serum sodium levels remained normal.…”

Section: Fig 1 Axial -T2-weighted [A-c] Diffusion-weighted [D-f] Amentioning

confidence: 99%

Contribution of the diffusion-weighted MRI in the diagnosis and follow-up of encephalopathy caused by maple syrup urine disease in a full-term newborn

Ferraz-Filho

Floriano

Quirici

et al. 2009

Arq. Neuro-Psiquiatr.

View full text Add to dashboard Cite

ContribuiÇÃo da SeQÜÊnCia difuSÃo da Mr no diagnÓStiCo e aCoMpanhaMento da enCefalopatia por doenÇa da urina eMMaple syrup urine disease (MSUD) or leucinosis is caused by a deficiency of the catalytic components of the α-ketoacid-dehydrogenase complex, which is responsible for the catabolism of branched-chain amino acids (leucine, isoleucine, and valine) 1,2 . It is an inherited genetic disease with an autosomal recessive pattern affecting approximately 1 out of 120,000-500,000 infants worldwide 3,4 . Diagnosis is made clinically based on the peculiar maple syrup odor or sugar burnt of the urine, encephalopathy, increased levels of branched-chain amino acids in the plasma and urine, and the presence of α-hydroxyacid and branched-chain α-ketoacids in urine. The presence of plasma L-alloisoleucine and urinary α-hydroxyisovalerate are pathognomonic for MSUD 2 . According to the literature, five forms of MSUD have been described: classic, intermediate, intermittent, thiamine-responsive, and dihydrolipoyl dehydrogenase-deficient. The commonest and severest form of the disease is the classic type, which is characterized by a neonatal onset of encephalopathy 2 . Magnetic resonance imaging (MRI) studies in the acute phase of classic MSUD are characterized by diffuse edema corresponding to both myelinated and unmyelinated areas of the brain [3][4][5][6] . The purpose of this case report is to show conventional MRI and diffusion-weighted imaging (DWI) findings of the different evolutionary phases in MSUD of a newborn that evolved with brain white matter lesions. CaSeA full-term male infant born from an uneventful pregnancy and delivery, with a birth weight of 3.245g and Apgar scores of 9/10 (at 1 and 5 min, respectively), was hospitalized because of sucking difficulties, weak cry, and lethargy. At 10 days of life, the baby had episodes of seizures, bradycardia, and apnea, leading to coma. Biochemical examinations showed hypoglycemia and metabolic ketoacidosis. Brain MRI at 10 days of life showed hypersignal lesions on DWI and corresponding hyposignals on ADC maps throughout the white matter of the brainstem, cerebella and internal capsules (Fig 1).At 20 days of life the clinical condition of the baby became critical and maple syrup odor or sugar burnt was noted in the urine. A repeat MRI at this time showed increasing myelinating white matter lesions and new hypersignal lesions on T2-weighted sequences and hyposignal on the diffusion-weighted images located in the unmyelinated white matter of the frontal, parietal and temporal lobes (Fig 2).At 25 At 8 months of age, a follow-up MRI was performed that showed persisting white matter lesions in the frontal, parietal and temporal lobes with associated hypersignal on DWI and hy-

show abstract

Diagnosis and Treatment of Maple Syrup Disease: A Study of 36 Patients

Cited by 273 publications

References 26 publications

Genetic Disorders Leading to Hypoglycaemia

Genetic Disorders Leading to Hypoglycaemia

Neuroimaging in Inborn Errors of Metabolism

Contribution of the diffusion-weighted MRI in the diagnosis and follow-up of encephalopathy caused by maple syrup urine disease in a full-term newborn

Contact Info

Product

Resources

About