Analysis of five cases of hypermethioninemia diagnosed by neonatal screening
-
Zhilei Zhang
and
Tao Jiang
Abstract
Background
Hypermethioninemia is a group of diseases with elevated plasma methionine (Met) caused by hereditary and non-hereditary factors, although it could also be caused by administration of the amino acid Met. Among these, the disease caused by methionine adenosyltransferase (MAT) I/III deficiency is the most common, and is characterized by persistent, isolated hypermethioninemia as well as slightly elevated homocysteine. S-adenosylmethionine is the product of Met, which can be used as a direct methyl donor of many substances, such as choline and nucleotide, and essential in the development of the body. Among the patients, most have no symptoms, and a small number have central nervous system complications with high levels of plasma Met, including mental retardation, cognitive impairment and special breathing odor.
Methods
In this study, five cases of MAT I/III deficiency were diagnosed and retrospectively analyzed among 220,000 newborns. Patients with high Met levels received a Met-restricted diet treatment.
Results and conclusions
MAT I/III deficiency is a common reason for Met elevation in neonatal screening by tandem mass spectrometry (MS/MS), which needs long-term follow-up except for these patients with explicitly benign mutations.
Acknowledgments
This paper was completed in March, 2019. And I thank all participants.
Author contributions: ZZL and SY conceptualized and designed the study, completed the experiment, led the review process and drafted the initial manuscript; SY reviewed all articles; WYY is responsible for the physical examination and follow-up of children; MDY is responsible for the genetic detection; and CW assisted to complete the experiment. All authors made substantial contributions to revising the manuscript. SY is responsible for the review and language editing. JT is responsible for the overall content. All authors read and approved the final manuscript.
Research funding: None declared.
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.
Informed consent: Informed consent was obtained from all individual participants included in the study.
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©2020 Walter de Gruyter GmbH, Berlin/Boston
Articles in the same Issue
- Frontmatter
- Editorial
- Inborn errors of metabolism
- Reviews
- Nutrition and medical support during pregnancy and lactation in women with inborn errors of intermediary metabolism disorders (IEMDs)
- The association between prenatal exposure to organochlorine compounds and neonatal thyroid hormone levels: a systematic review
- Original Articles
- Investigating the incidence rate and geographical distribution of congenital hypothyroidism among neonates in Isfahan province using geographic information system (GIS) between 2002 and 2015
- Analysis of five cases of hypermethioninemia diagnosed by neonatal screening
- What is the evidence for beneficial effects of growth hormone treatment beyond height in short children born small for gestational age? A review of published literature
- Machine learning-based prediction of response to growth hormone treatment in Turner syndrome: the LG Growth Study
- Pathogenic/likely pathogenic variants in the SHOX, GHR and IGFALS genes among Indian children with idiopathic short stature
- Celiac disease in Saudi children with isolated short stature: is it rare or are we not screening rigorously enough?
- The beneficial effect of psychological support on mothers with PKU children who suffer from social discrimination and damage of quality of life
- Long-term effects of GnRH agonist treatment on body mass index in girls with idiopathic central precocious puberty
- Sudden sex hormone withdrawal and the effects on body composition in late pubertal adolescents with gender dysphoria
- The alteration of IGF-1 levels and relationship between IGF-1 levels and growth velocity during GnRH analogue therapy
- BMI relationship to the onset of puberty: assessment of growth parameters and sexual maturity changes in Egyptian children and adolescents of both sexes
- The effects of a 12-week jump rope exercise program on body composition, insulin sensitivity, and academic self-efficacy in obese adolescent girls
- Onset of pituitary hormone deficiencies in optic nerve hypoplasia: a temporal trend analysis of 32 children at Mayo Clinic
- Dietary practices in methylmalonic acidaemia: a European survey
- Case Reports
- Clinical findings in five Turkish patients with citrin deficiency and identification of a novel mutation on SLC25A13
- A rare case of primary coenzyme Q10 deficiency due to COQ9 mutation
- Sinusitis, an under-reported adverse effect in children treated with radioactive iodine therapy and review of the current literature
- Acknowledgment
Articles in the same Issue
- Frontmatter
- Editorial
- Inborn errors of metabolism
- Reviews
- Nutrition and medical support during pregnancy and lactation in women with inborn errors of intermediary metabolism disorders (IEMDs)
- The association between prenatal exposure to organochlorine compounds and neonatal thyroid hormone levels: a systematic review
- Original Articles
- Investigating the incidence rate and geographical distribution of congenital hypothyroidism among neonates in Isfahan province using geographic information system (GIS) between 2002 and 2015
- Analysis of five cases of hypermethioninemia diagnosed by neonatal screening
- What is the evidence for beneficial effects of growth hormone treatment beyond height in short children born small for gestational age? A review of published literature
- Machine learning-based prediction of response to growth hormone treatment in Turner syndrome: the LG Growth Study
- Pathogenic/likely pathogenic variants in the SHOX, GHR and IGFALS genes among Indian children with idiopathic short stature
- Celiac disease in Saudi children with isolated short stature: is it rare or are we not screening rigorously enough?
- The beneficial effect of psychological support on mothers with PKU children who suffer from social discrimination and damage of quality of life
- Long-term effects of GnRH agonist treatment on body mass index in girls with idiopathic central precocious puberty
- Sudden sex hormone withdrawal and the effects on body composition in late pubertal adolescents with gender dysphoria
- The alteration of IGF-1 levels and relationship between IGF-1 levels and growth velocity during GnRH analogue therapy
- BMI relationship to the onset of puberty: assessment of growth parameters and sexual maturity changes in Egyptian children and adolescents of both sexes
- The effects of a 12-week jump rope exercise program on body composition, insulin sensitivity, and academic self-efficacy in obese adolescent girls
- Onset of pituitary hormone deficiencies in optic nerve hypoplasia: a temporal trend analysis of 32 children at Mayo Clinic
- Dietary practices in methylmalonic acidaemia: a European survey
- Case Reports
- Clinical findings in five Turkish patients with citrin deficiency and identification of a novel mutation on SLC25A13
- A rare case of primary coenzyme Q10 deficiency due to COQ9 mutation
- Sinusitis, an under-reported adverse effect in children treated with radioactive iodine therapy and review of the current literature
- Acknowledgment
