Pregnancy and Homocystinuria

Brenton, D. P.; Cusworth, D. C.; Biddle, Susan A.; Garrod, P.; Lasley, Lorey

doi:10.1177/000456327701400136

Cited by 14 publications

(3 citation statements)

References 5 publications

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“…Fatal or near‐fatal thromboembolic events in untreated maternal pyridoxine‐responsive homocystinuria have been previously reported 3,4,5 . For women who are treated and responsive to pyridoxine, the results are encouragingly normal with regard to pregnancy and its outcome 6,7 . Caution must still remain in predicting a normal outcome of pregnancy in pyridoxine non‐responsive women with high plasma homocysteine and methionine 1 .…”

Section: Discussionmentioning

confidence: 99%

Maternal pyridoxine non‐responsive homocystinuria: the role of dietary treatment and anticoagulation

Yap

Barry-Ḱinsella

Naughten

2001

BJOG

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a Case reportA 19 year old girl with pyridoxine non-responsive homocystinuria due to cystathionine b-synthase de®-ciency, became pregnant. She had been diagnosed through newborn screening and was commenced on a methionine restricted, cystine supplemented diet since the ninth day of life. Mutational analysis for cystathionine b-synthase showed that she was a compound heterozygote of G307S / A354P. Her methionine tolerance was approximately 225 mg/day, equivalent to 9g /day of dietary (natural) protein. A synthetic amino acid mixture was prescribed at 1 g/kg body weight/day. Supplementation with cofactors included pyridoxine 200 mg three times daily, folic acid 5 mg/day, vitamin B 12 4 mg three times daily and betaine anhydrous, a remethylating agent, 1.5 g three times daily. As a consequence of her poor compliance with treatment, she has suffered dislocation of the lens and learning dif®culties. She had a lifetime free homocystine concentration of 18 (0±81) mmol/L [median range] prior to conception 8 . She was seen at six weeks of gestation and remained on her maintenance treatment throughout the pregnancy with necessary adjustments to her intake of dietary and synthetic proteins. Previous mutational analysis for other genetic thrombophilic factors were negative, for Factor V Leiden, thermolabile-methylenetetrahydrofolate reductase and prothrombin 20210A. Her serum concentrations of free homocystine, total homocysteine, methionine and cystine, and her coagulation pro®le including ®brinogen levels, were monitored, initially fortnightly and then weekly in the third trimester. Serum B 12 and folate levels were measured monthly.The pregnancy was uneventful and she maintained normal serum B 12, folate, coagulation pro®le, platelet count and ®brinogen levels throughout her pregnancy. Supplementation with cofactors and betaine anhydrous were continued. Her methionine tolerance gradually increased from 225 mg to 575 mg/day (9±23 g dietary protein) before delivery. The synthetic protein was prescribed at 1 g/kg body weight/day and the total protein intake was approximately 1.25 g/kg body weight/day (Fig. 1). The dietary protein intake was titrated to maintain a free homocystine of , 5 mmol/ L. She maintained fairly good compliance with this dietary regimen with mean levels (SD) of free homocystine of 8.2 (5.5) mmol/L, total homocystine 74.8 (20.6) mmol/L and methionine 61.8 (33.9) mmol/L during her pregnancy. Subcutaneous heparin 5000U twice daily was given from one-week before birth until six weeks after birth.She was admitted at 38 weeks of gestation in spontaneous labour and had an uncomplicated vacuum delivery of a life male infant. Apgar scores were nine at one minute and ten at ®ve minutes. His birthweight was 4 kg (90 th centile), length was 48 cm (,50 th centile) and head circumference was 36.5 cm (90 th centile). An obligate heterozygote, he had a normal physical examination, cranial ultrasound and echocardiogram. His total homocysteine was normal on the ®rst, third and seventh days of life while fed on a proprie...

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Section: Discussionmentioning

confidence: 99%

Maternal pyridoxine non‐responsive homocystinuria: the role of dietary treatment and anticoagulation

Yap

Barry-Ḱinsella

Naughten

2001

BJOG

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“…Homocystinuria (a biochemical abnormality, not a specific disease entity), can cause reversible hypopigmentation owing to tyrosinase inhibition by homocysteine 116 . The patients reverse a fine blond hair, fair skin, and blue eyes with cardiovascular, skeletal abnormalities and mental retardation.…”

Section: Miscellaneous Disordersmentioning

confidence: 99%

Hereditary hypo/de‐pigmented dermatoses: An overview

Sehgal¹,

Srivastava²

2008

Int J Dermatology

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“…Homocystinuria (a biochemical abnormality, not a specific disease entity), can cause reversible hypopigmentation owing to tyrosinase inhibition by homocysteine. 116 The patients reverse a fine blond hair, fair skin, and blue eyes with cardiovascular, skeletal abnormalities and mental retardation. Other skin changes include malar flush and livedo reticularis.…”

Section: Miscellaneous Disordersmentioning

confidence: 99%