First Chinese case of successful pregnancy with combined methylmalonic aciduria and homocystinuria, cblC type

Liu, Yupeng; Wang, Qiao; Li, Xiyuan; Yuan, Ding; Song, Jinqing; Yang, Yanling

doi:10.1016/j.braindev.2014.06.007

Cited by 15 publications

(14 citation statements)

References 30 publications

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“…Spongiform white matter degeneration and demyelination of the dorsal and lateral columns of the cord or subacute combined degeneration of the spinal cord (SACD) are known complications in remethylation disorders (Huemer et al 2014; Liu et al 2015). Changes are similar to classical adult spinal cord degeneration due to, e.g.…”

Section: Which Parameters Allow Valid and Timely Laboratory Diagnosis?mentioning

confidence: 99%

“…Psychiatric manifestations may be the presenting sign in patients with late-onset remethylation disorders. Dementia, behavioural problems and psychiatric symptoms have frequently been observed in the combined (Roze et al 2003; Liu et al 2015; Huemer et al 2014) as well in isolated remethylation disorders (Huemer et al 2015a) and MTHFR deficiency (Birnbaum et al 2008). In early onset cases, behavioural problems and psychiatric symptoms can evolve over time despite treatment (Fischer et al 2014).…”

Section: Which Parameters Allow Valid and Timely Laboratory Diagnosis?mentioning

confidence: 99%

“…The OHCbl and carnitine administration was adjusted to maintain a decrease of tHcy and an increase of total carnitine plasma levels. Recently a woman with late-onset cblC, also treated from the 15th week of gestation and giving birth to a healthy child has been reported (Liu et al 2015). So far, pregnancies in women with other remethylation defects have not been reported.…”

Section: The Effects Of Treatment On Clinical Outcomementioning

confidence: 99%

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Guidelines for diagnosis and management of the cobalamin‐related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

Huemer

Diodato

Schwahn

et al. 2016

J of Inher Metab Disea

212

351

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BackgroundRemethylation defects are rare inherited disorders in which impaired remethylation of homocysteine to methionine leads to accumulation of homocysteine and perturbation of numerous methylation reactions.ObjectiveTo summarise clinical and biochemical characteristics of these severe disorders and to provide guidelines on diagnosis and management.Data sourcesReview, evaluation and discussion of the medical literature (Medline, Cochrane databases) by a panel of experts on these rare diseases following the GRADE approach.Key recommendationsWe strongly recommend measuring plasma total homocysteine in any patient presenting with the combination of neurological and/or visual and/or haematological symptoms, subacute spinal cord degeneration, atypical haemolytic uraemic syndrome or unexplained vascular thrombosis. We strongly recommend to initiate treatment with parenteral hydroxocobalamin without delay in any suspected remethylation disorder; it significantly improves survival and incidence of severe complications. We strongly recommend betaine treatment in individuals with MTHFR deficiency; it improves the outcome and prevents disease when given early.Electronic supplementary materialThe online version of this article (doi:10.1007/s10545-016-9991-4) contains supplementary material, which is available to authorised users.

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Section: Which Parameters Allow Valid and Timely Laboratory Diagnosis?mentioning

confidence: 99%

Section: Which Parameters Allow Valid and Timely Laboratory Diagnosis?mentioning

confidence: 99%

Section: The Effects Of Treatment On Clinical Outcomementioning

confidence: 99%

See 1 more Smart Citation

Guidelines for diagnosis and management of the cobalamin‐related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

Huemer

Diodato

Schwahn

et al. 2016

J of Inher Metab Disea

212

351

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“…Case reports of successful pregnancy with maintenance of high-dose cobalamin therapy and appropriate thromboprophylaxis, e.g. aspirin, are reported [ 126 , 127 ]. Of note, nitrous oxide anaesthesia should be avoided given its toxic effect on B12 metabolism [ 88 ].…”

Section: Types Of Iem and How They May Be Impacted Upon By Pregnancymentioning

confidence: 99%

Impact of pregnancy on inborn errors of metabolism

Wilcox

2018

Rev Endocr Metab Disord

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Once based mainly in paediatrics, inborn errors of metabolism (IEM), or inherited metabolic disorders (IMD) represent a growing adult medicine specialty. Individually rare these conditions have currently, a collective estimated prevalence of >1:800. Diagnosis has improved through expanded newborn screening programs, identification of potentially affected family members and greater awareness of symptomatic presentations in adolescence and in adulthood. Better survival and reduced mortality from previously lethal and debilitating conditions means greater numbers transition to adulthood. Pregnancy, once contraindicated for many, may represent a challenging but successful outcome. Successful pregnancies are now reported in a wide range of IEM. Significant challenges remain, given the biological stresses of pregnancy, parturition and the puerperium. Known diagnoses allow preventive and pre-emptive management. Unrecognized metabolic disorders especially, remain a preventable cause of maternal and neonatal mortality and morbidity. Increased awareness of these conditions amongst all clinicians is essential to expedite diagnosis and manage appropriately. This review aims to describe normal adaptations to pregnancy and discuss how various types of IEM may be affected. Relevant translational research and clinical experience will be reviewed with practical management aspects cited. Based on current literature, the impact of maternal IEM on mother and/or foetus, as well as how foetal IEM may affect the mother, will be considered. Insights gained from these rare disorders to more common conditions will be explored. Gaps in the literature, unanswered questions and steps to enhance further knowledge and systematically capture experience, such as establishment of an IEM-pregnancy registry, will be summarized.

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“…There is little research in the literature to describe pregnancy outcomes to help guide physicians and obstetricians in the management of pregnant women with rare diseases in China. One patient of methylmalonic aciduria (MMA) and homocystinuria, cblC type, in China has been reported to deliver a clinically healthy child (Liu 2015).Herein, we describe the pregnancy, delivery, and offspring outcomesfortenpatients with PKU in China, alongan evaluation of the effect of the timing and duration of diet, routine nutritional assessment, and other medical interventions.…”

Section: Introductionmentioning

confidence: 99%

The First Study of Successful Pregnancies in Chinese patients with Phenylketonuria

Wang

Zou

et al. 2019

Preprint

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Since the inception of newborn screening programs in China in the 1990s, pregnancy among patients with inherited, metabolic disorders has become more common. This study explores the management and outcomes of planned, full-term pregnancies in patients with phenylketonuria (PKU). Married patients from 2012 to 2017 were enrolled to receive prenatal counseling and their partners were screened for heterozygous genes of phenylalanine hydroxylase (PAH). Daily intake of phenylalanine (Phe), blood Phe, obstetrical data, and offspring outcomes (e.g. developmental quotients [DQs]) were recorded. None of the paternal parents were heterozygous for PAH. A total of 6 neonates were successfully delivered, 5 males and 1 female. The mean ±SD (range) age of the mother at delivery was 26.3±4.7 (range:21.1-32.5) years old. The mean duration of Phe control before pregnancy was 5.5±1.3 (range:3.1-6.5) months. During pregnancy, the proportion of time during which blood Phe concentrations were within the clinically-recommended target range (120–360 μmol/L) was 63.2-83.5%. For the two babies born to patients with <70% of their pregnancy within the blood Phe target range, both birth weight and DQs were lower than the other four births. This is the first report of women in China with PKU who successfully gave birth to clinically healthy babies. Infant outcomes were related to maternal blood Phe management prior to and during pregnancy. In maternal PKU patients with poor compliance to dietary treatment, sapropterin dihydrochloride（6R-BH4）may be an option to improve the management of blood Phe levels.

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First Chinese case of successful pregnancy with combined methylmalonic aciduria and homocystinuria, cblC type

Cited by 15 publications

References 30 publications

Guidelines for diagnosis and management of the cobalamin‐related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

Guidelines for diagnosis and management of the cobalamin‐related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

Impact of pregnancy on inborn errors of metabolism

The First Study of Successful Pregnancies in Chinese patients with Phenylketonuria

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