Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey
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Pelin Teke Kisa
Abstract
Classical galactosemia is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in the GALT gene. With the benefit of early diagnosis by newborn screening, the acute presentation of galactosemia can be prevented. In this study, we describe the clinical phenotypes, time of diagnosis and GALT genotypes of 76 galactosemia patients from Turkey, where the disease is not yet included in the newborn screening program. The median age at first symptom was 10 days (range 5–20), while the median age at diagnosis was 30 days (range 17–53). Nearly half of the patients (36 patients, 47.4%) were diagnosed later than age 1 month. Fifty-eight individuals were found to have 18 different pathogenic variants in their 116 mutant alleles. In our sample, Q188R variant has the highest frequency with 53%, the other half of the allele frequency of the patients showed 17 different genotypes. Despite presenting with typical clinical manifestations, classical galactosemia patients are diagnosed late in Turkey. Due to the geographical location of our country, different pathogenic GALT variants may be seen in Turkish patients. In the present study, a clear genotype-phenotype correlation could not be established in patients.
Author contributions: Pelin Teke Kisa conceptualized and designed the study, carried out the analyses, drafted the initial manuscript and approved the final version as submitted. Melis Kose, Ozlem Unal, Esra Er, Burcu Ozturk Hismi, Fatma Selda Bulbul, Engin Kose, Mehmet Gunduz, Ebru Canda and Aynur Kucukcongar helped to conceptualize and design the study, collect the data, review and revise the manuscript, and approved the final version as submitted. Nur Arslan critically reviewed the manuscript and approved the final version as submitted.
Compliance with ethical standards: The study was planned and executed in accordance with the Declaration of Helsinki and was approved by the Institutional Review Board.
Conflict of interest: There are no conflicts of interest to declare.
Informed consent: Informed assent from the participants (whenever appropriate) and written informed consent from their caregivers were obtained.
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©2019 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
- Frontmatter
- Review
- Effect of safflower yellow on early type II diabetic nephropathy: a systematic review and meta-analysis of randomized controlled trials
- Original Articles
- Genomic study via chromosomal microarray analysis in a group of Romanian patients with obesity and developmental disability/intellectual disability
- Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey
- Assessment of retinal thickness as a marker of brain masculinization in children with congenital adrenal hyperplasia: a pilot study
- Auditory event-related potentials demonstrate early cognitive impairment in children with subclinical hypothyroidism
- Cardiovascular risk factors in children with type 1 diabetes mellitus
- The relationship between serum FGF-23 concentration and insulin resistance, prediabetes and dyslipidemia in obese children and adolescents
- The metabolic consequences of overweight in a cohort of children with type 1 diabetes
- The spectrum of pediatric adrenal insufficiency: insights from 34 years of experience
- Growth screening in children aged 3–5 years: a useful tool for public health programs in community pediatrics
- Selective receptor-mediated impairment of growth factor activity in neonatal- and X-linked adrenoleukodystrophy patients
- Determinants for low bone mineral density in pre-school children: a matched case-control study in Wuhan, China
- Genetic polymorphisms associated with obesity and non-alcoholic fatty liver disease in Asian Indian adolescents
- Maturity onset diabetes of the young (MODY) in Chinese children: genes and clinical phenotypes
- Severe, persistent neonatal hypoglycemia as a presenting feature in patients with congenital hypopituitarism: a review of our case series
- Case Reports
- Short stature in a boy with atypical progeria syndrome due to LMNA c.433G>A [p.(Glu145Lys)]: apparent growth hormone deficiency but poor response to growth hormone therapy
- A novel mutation leading to the lethal form of carnitine palmitoyltransferase type-2 deficiency
- Diagnosis of cyclic Cushing’s disease manifests as early morning hyperglycemia in a patient with previously well-controlled type 1 diabetes
- Short Communication
- Replacement of breastfeeding with medical food for the treatment of galactosemia and phenylketonuria: maternal stress
Artikel in diesem Heft
- Frontmatter
- Review
- Effect of safflower yellow on early type II diabetic nephropathy: a systematic review and meta-analysis of randomized controlled trials
- Original Articles
- Genomic study via chromosomal microarray analysis in a group of Romanian patients with obesity and developmental disability/intellectual disability
- Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey
- Assessment of retinal thickness as a marker of brain masculinization in children with congenital adrenal hyperplasia: a pilot study
- Auditory event-related potentials demonstrate early cognitive impairment in children with subclinical hypothyroidism
- Cardiovascular risk factors in children with type 1 diabetes mellitus
- The relationship between serum FGF-23 concentration and insulin resistance, prediabetes and dyslipidemia in obese children and adolescents
- The metabolic consequences of overweight in a cohort of children with type 1 diabetes
- The spectrum of pediatric adrenal insufficiency: insights from 34 years of experience
- Growth screening in children aged 3–5 years: a useful tool for public health programs in community pediatrics
- Selective receptor-mediated impairment of growth factor activity in neonatal- and X-linked adrenoleukodystrophy patients
- Determinants for low bone mineral density in pre-school children: a matched case-control study in Wuhan, China
- Genetic polymorphisms associated with obesity and non-alcoholic fatty liver disease in Asian Indian adolescents
- Maturity onset diabetes of the young (MODY) in Chinese children: genes and clinical phenotypes
- Severe, persistent neonatal hypoglycemia as a presenting feature in patients with congenital hypopituitarism: a review of our case series
- Case Reports
- Short stature in a boy with atypical progeria syndrome due to LMNA c.433G>A [p.(Glu145Lys)]: apparent growth hormone deficiency but poor response to growth hormone therapy
- A novel mutation leading to the lethal form of carnitine palmitoyltransferase type-2 deficiency
- Diagnosis of cyclic Cushing’s disease manifests as early morning hyperglycemia in a patient with previously well-controlled type 1 diabetes
- Short Communication
- Replacement of breastfeeding with medical food for the treatment of galactosemia and phenylketonuria: maternal stress
