A first case report of UDP-galactose-4′-epimerase deficiency in China: genotype and phenotype
-
Fan Tong
,
Fang Hong
Abstract
Background: The aim of the study was to investigate the incidence and genotype-phenotype characteristics of UDP-galactose-4′-epimerase (GALE) deficiency in newborn screening of Chinese population.
Methods: Neonates were screened at the Newborn Screening Center of Zhejiang Province, China for GALE deficiency and their condition was confirmed by testing of the GALE gene and GALE enzyme. Clinical and laboratory follow-up data were recorded.
Results: A total of 350,023 of newborns were screened; of which, the condition of one female neonate was diagnosed with GALE deficiency, accounting for an incidence rate of approximately 1:350,000 in our sample. The patient with GALE deficiency clinically manifested slight increase in levels of blood galactose (122–251 mg/L), glutamyl endopeptidase (61 U/L), total bile acid (17 μmol/L), and lactic acid (1.8 mmol/L). The neonate was fed with lactose-free powdered milk and followed-up to 1 year. Re-examination showed that all biochemical indicators recovered to normal range, whereas physical and mental development appeared normal without cataract change. The genotype of GALE deficiency was identified as compound heterozygous mutations: c.505C>T (p.R169W) and c.452G>A (p.G151D). The latter was a novel mutation. The GALE enzyme value was 42% of control.
Conclusions: GALE deficiency is relatively rare in China. The genotype of compound heterozygous mutations at R169W and G151D clinically manifest as mild-type; it is recommended to limit galactose diet.
Acknowledgments
This work was supported by Fund (2014KYA255) from Health and Family Planning Commission of Zhejiang Province and Fund (Y201328502) from Education Department of Zhejiang Province, China.
Author contributions: Fan Tong wrote the first draft of the manuscript. Dr. Rulai Yang is the corresponding author. All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: The cost of the testing of GALE gene and GALE enzyme was defrayed by Funds (2014KYA255 and Y201328502).
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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Articles in the same Issue
- Frontmatter
- Review
- Role of nutrition in preventing insulin resistance in children
- Original Articles
- Reduced frequency and severity of ketoacidosis at diagnosis of childhood type 1 diabetes in Northwest Saudi Arabia
- Differences in parental involvement in the care of children and adolescents with type 1 diabetes mellitus on multiple daily insulin injections versus continuous subcutaneous insulin infusion
- Value of the intrarenal arterial resistivity indices and different renal biomarkers for early identification of diabetic nephropathy in type 1 diabetic patients
- Remission of congenital hyperinsulinism following conservative treatment: an exploratory study in patients with KATP channel mutations
- Relationship between visceral obesity and plasma fibrinogen in obese children
- Diagnostic approach in children with unusual symptoms of acquired hypothyroidism. When to look for pituitary hyperplasia?
- The shortened combined clonidine and arginine test for growth hormone deficiency is practical and specific: a diagnostic accuracy study
- Bone maturation along the spectrum from normal weight to obesity: a complex interplay of sex, growth factors and weight gain
- Outcomes analysis of radioactive iodine and total thyroidectomy for pediatric Graves’ disease
- Direct sequencing of FAH gene in Pakistani tyrosinemia type 1 families reveals a novel mutation
- Odontoiatric perspectives and osteonecrosis of the jaw as a possible adverse effect of bisphosphonates therapy in fibrous dysplasia and McCune-Albright syndrome
- The relation of urinary bisphenol A with kisspeptin in girls diagnosed with central precocious puberty and premature thelarche
- Pattern of teen menstruation among secondary school girls in south east Nigeria
- Should children with isolated premature adrenarche be routinely evaluated for non-classical congenital adrenal hyperplasia?
- Anxiety, depression and self-esteem levels in obese children: a case-control study
- Case Reports
- Transient congenital hypothyroidism caused by compound heterozygous mutations affecting the NADPH-oxidase domain of DUOX2
- Isolated methylmalonic acidemia with unusual presentation mimicking diabetic ketoacidosis
- A first case report of UDP-galactose-4′-epimerase deficiency in China: genotype and phenotype
- A novel mutation in the glutamate dehydrogenase (GLUD1) of a patient with congenital hyperinsulinism-hyperammonemia (HI/HA)
- Letter to the Editor
- Partial biotinidase deficiency: identification of a single novel mutation (p.H314R) in a Greek newborn
