- What is homocystinuria and what causes it?
- What are the symptoms of homocystinuria?
- How is it diagnosed?
- What is the prognosis?
- What is the risk for other family members or future babies?
- What treatments/therapies/medications are recommended or available?
- How will my child and our family be impacted?
- Can I breastfeed my baby who has just been diagnosed with homocystinuria?
- developmental delay
- emotional and behavior problems
- ectopia lentis (dislocation of the ocular lens) or severe myopia (nearsightedness)
- Marfanoid habitus: tall/thin build; long fingers, arms, and legs
- genu valgum (knocked knees), pes cavus (high arch/instep)
- osteoporosis (weak/brittle bones)
- malar flush (red cheeks)
- decreased hair, skin, iris pigmentation
- vascular disease and stroke
- psychiatric abnormalities
- intellectual disabilities
Homocystinuria - Information for Parents (STAR-G)
A fact sheet, written by a genetic counselor and reviewed by metabolic and genetic specialists, for families who have received an initial diagnosis of this newborn disorder; Screening, Technology and Research in Genetics.
Homocystinuria (Genetics Home Reference)
Excellent, detailed review for patients and families affected by homocystinuria; a service of the U.S. National Library of Medicine.
Parent Information Sheet Homocystinuria - Confirmed Diagnosis (NHS) ( 336 KB)
Information for parents for when the results of the newborn blood spot screening are positive; National Institute for Health Research (UK).
Homocystinuria Guide for Parents (NECMP)
Information about homocystinuria for patients, including inheritance, diagnosis, maintaining a healthy diet, treatment, and testing of other children; from the New England Consortium of Metabolic Programs.
Boston Children’s Hospital Transition Toolkit for Homocystinuria ( 389 KB)
Includes health readiness assessments, metabolic conditions basics, and a transition plan for youth with homocystinuria. Sponsored by the New England Consortium of Metabolic Programs.
Care Notebook (UT Dept. of Health) ( 467 KB)
For families to track your child's care, health, and other information; with pages from 10 different states. Word document may be edited.
Transition Toolkit for Metabolic Conditions (NECMP)
Includes health readiness assessments, metabolic conditions basics, and a transition plan for youth with metabolic conditions; New England Consortium of Metabolic Programs.
See all Developmental Pediatrics services providers (5) in our database.
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See all Newborn Screening Programs services providers (3) in our database.
We currently have no Nutrition, Metabolic service providers listed; search our Services database for related services.
See all Pediatric Genetic Counseling services providers (5) in our database.
See all Pediatric Genetics services providers (5) in our database.
See all Pediatric Metabolic Genetics services providers (2) in our database.
See all Pediatric Ophthalmology services providers (8) in our database.
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See all Vision Services services providers (28) in our database.
For other services related to this condition, browse our Services categories or search our database.
|Reviewing Author:||Meghan Candee, MD - 2/2015|
|Compiled and edited by:||Alfred Romeo, RN, PhD - 12/2015|
|Content Last Updated:||12/2015|
American College of Medical Genetics.
Homocystinuria: transition to adult health care ACT sheet.
2012; 2. https://www.acmg.net/StaticContent/ACT/Homocystinuria_Transition.pdf
Educational resource for clinicians providing care for patients with homocystinuria.
New England Consortium of Metabolic Programs.
Homocystinuria: a guide for parents of babies recently screened for homocystinuria.
(2010) http://newenglandconsortium.org/for-families/other-metabolic-disorders.... Accessed on July 2014.
Yap S, Naughten ER, Wilcken B, Wilcken DE, Boers GH.
Vascular complications of severe hyperhomocysteinemia in patients with homocystinuria due to cystathionine beta-synthase deficiency: effects of homocysteine-lowering therapy.
Semin Thromb Hemost. 2000;26(3):335-40. PubMed abstract