Literature Review and Outcome of Classic Galactosemia Diagnosed in the Neonatal Period

Karadağ, Nilgün; Zencıroğlu, Ayşegül; Eminoğlu, Fatma Tuba; Díllí, Dílek; Karagöl, Belma Saygılı; Kundak, Ahmet Afşin; Dursun, Arzu; Hakan, Nilay; Okumuş, Nurullah

doi:10.7754/clin.lab.2013.121235

Cited by 33 publications

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“…The ages at the time of diagnosis were examined in many studies, and patients who were diagnosed in the first 15 days were defined as early diagnosed (8)(9)(10)(11)(12). In our study, six of our patients were diagnosed in the first 15 days after birth and the remaining eight patients were diagnosed after 15 days.…”

Section: Discussionmentioning

confidence: 90%

“…Similarly, jaundice was also the most common finding in the study conducted by Öztürk et al (6). In the study conducted by Karadağ et al (8), jaundice was found in 86% of patients. However, patients with sepsis were diagnosed earlier compared with those followed up because of jaundice.…”

Section: Discussionmentioning

confidence: 99%

“…In a Turkish study conducted by Öztürk et al (6), the age at the time of diagnosis was 28 days, which was similar to our data. In the study conducted by Karadağ et al (8), it was reported that the mean age at the time of hospital presentation was 13 days. Henderson et al (9) reported that 17 patients were diagnosed over a period of 21 years in the region of Cape Town in South Africa, the mean age at the time of diagnosis was 5.1 months.…”

Section: Discussionmentioning

confidence: 99%

“…In the study of Karadağ et al (8), four patients underwent surgery because of cataracts. The mean age at the time of diagnosis was 17±2.8 days in our patients who were diagnosed with cataract.…”

Section: Discussionmentioning

confidence: 99%

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Clinical, molecular, and genetic evaluation of galactosemia in Turkish children

et al. 2016

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Aim: Galactosemia is a carbohydrate metabolism disorder with autosomal recessive inheritance. The most frequent enzyme deficiency is galactose-1-phosphate-uridylytransferase, which causes classic galactosemia. When the enzyme is absent, an infant cannot metabolize galactose-1-phosphate and it cumulates in liver, kidney, brain, tongue, lens, and skin. This study aimed to evaluate the clinical and molecular characteristics of patients with galactosemia, which is observed more frequently in our country than anywhere else in the world. Material and Methods:This is a retrospective study that includes the moleculer and genetic charcteristics of 14 patient who were diagnosed as having galactosemia between January 2009 and January 2011.Results: Nine patients were male and 5 female. Consanguineous marriage was detected in the family history of 7 patients. One patient had a history of a deceased sibling with a confirmed diagnosis of galactosemia. The main reasons for admission to the hospital were jaundice in 9, hypoglycemia in 2, sepsis in 2, and elevated liver enzymes in 1 patient. The Beutler test was positive in all patients. The mean enzyme activity was 0.36±0.26 µmol/mL. Only 6 of our cases were diagnosed in the early period (first 15 days). Cataract was present in four patients. Q188R mutation was observed in 13 patients, and homozygote N314D and homozygote E340X mutations were observed in one patient. Three patients had impaired neurologic development according to the Denver Developmental Screening Test II. Conclusion:The most common genetic abnormality was Q188R mutation. Only 43% of our patients's disease could be diagnosed at an early stage. We suggest that galactosemia should be included in the national newborn screening program in order to make earlier diagnoses. (Turk Pediatri Ars 2016; 51: 204-9)

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Section: Discussionmentioning

confidence: 90%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Clinical, molecular, and genetic evaluation of galactosemia in Turkish children

et al. 2016

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“…E. coli sepsisi 10 olguda saptanırken, bir olguda purpura fulminans, bir olguda hemofagositoz, bir olguda da uzun QT sendromu saptanmış-tır. 12 Sarılık, karaciğer fonksiyon testlerinde bozukluk, hepatomegali hepatoselüler hasarlanmaya bağlı olarak genellikle ilk haftadan sonra ortaya çıkar. Hemoliz de sarılığın ortaya çıkmasına katkıda bulunur.…”

Section: Discussionunclassified

Galactosemia: Three Different Clinical Presentation: Case Report

Çetinkaya¹,

Engür²,

Ünüvar³

et al. 2015

Turkiye Klinikleri J Pediatr

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Appropriateness of newborn screening for classic galactosaemia: a systematic review

Varela-Lema¹,

Paz-Valiñas²,

Atienza-Merino³

et al. 2016

J of Inher Metab Disea

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Currently, there is no universal agreement on galactosaemia screening, fundamentally because of the risk-benefit uncertainties. We conducted two exhaustive systematic searches in the main electronic databases (PubMed, Embase, Cochrane, etc.) to recover relevant information about the disease and screening test/s in order to support decision making in Spain. All of the 45 studies identified that covered disease issues were retrospective case series or cross-sectional analysis (level-4 evidence). Studies consistently found that the majority of patients presented characteristic symptomatology before diagnosis. Long term disabilities were not significantly correlated with age of diagnosis, onset of dietary restriction or strict diet compliance. The five studies that provided accuracy data used different cut-off points and verification tests, and thus differed in their definitions of a positive case (level-3b evidence). The estimated sensitivity was 100 % and the specificity 99.9 %. The false-positive rate ranged from 0.0005 % to 0.25 %, and the PPV from 0 % to 64.3 %. The comparative clinical effectiveness in relation to not screening or implementation of other programs is unknown. In summary, existing evidence remains insufficient to establish the appropriateness of newborn screening for galactosaemia screening, although health benefits could be expected if early diagnosis and treatment is achieved. If screening is implemented in Spain, it would be important that a pilot programme be implemented to assess false positive rate and ensure that early diagnosis is not delayed.

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Literature Review and Outcome of Classic Galactosemia Diagnosed in the Neonatal Period

Cited by 33 publications

References 0 publications

Clinical, molecular, and genetic evaluation of galactosemia in Turkish children

Clinical, molecular, and genetic evaluation of galactosemia in Turkish children

Galactosemia: Three Different Clinical Presentation: Case Report

Appropriateness of newborn screening for classic galactosaemia: a systematic review

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