Homocystinuria
- Introduction
- 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?
- Resources
Introduction
What is homocystinuria and what causes it?
What are the symptoms of 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
- seizures
- vascular disease and stroke
- psychiatric abnormalities
- intellectual disabilities
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?
Resources
Information & Support
For Parents and Patients
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 (MedlinePlus)
Excellent, detailed review for patients and families affected by homocystinuria; National Library of Medicine and National
Institutes of Health.
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: A Guide for Parents of Babies Recently Screened for Homocystinuria (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.
Tools
Boston Children's Hopsital Transition Toolkit (NECMP)
Includes health readiness assessments, metabolic conditions basics, and a transition plan for youth with metabolic conditions;
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.
Services for Patients & Families in Rhode Island (RI)
Service Categories | # of providers* in: | RI | NW | Other states (5) (show) | | ID | MT | NM | NV | UT |
---|---|---|---|---|---|---|---|---|---|---|
Developmental - Behavioral Pediatrics | 11 | 1 | 2 | 8 | 2 | 3 | 8 | |||
Early Intervention for Children with Disabilities/Delays | 14 | 2 | 148 | 28 | 156 | 30 | 55 | |||
Genetic Testing and Counseling | 4 | 2 | 6 | 8 | 59 | 20 | 12 | |||
Head Start/Early Head Start | 14 | 1 | 72 | 98 | 72 | 56 | 54 | |||
Nutrition, Metabolic | 18 | 16 | 16 | 17 | 16 | 17 | 17 | |||
Pediatric Genetics | 4 | 1 | 3 | 7 | 4 | 5 | 7 | |||
Pediatric Ophthalmology | 8 | 1 | 9 | 14 | 9 | 6 | 6 | |||
Pediatric Orthopedics | 12 | 2 | 4 | 14 | 13 | 6 | 19 | |||
Vision Screening | 5 | 3 | 165 | 14 | 187 | 14 | 22 |
For services not listed above, browse our Services categories or search our database.
* number of provider listings may vary by how states categorize services, whether providers are listed by organization or individual, how services are organized in the state, and other factors; Nationwide (NW) providers are generally limited to web-based services, provider locator services, and organizations that serve children from across the nation.
Page Bibliography
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)
https://www.newenglandconsortium.org/homocystinuria-hcu. Accessed on 12/2020.
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