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Dermatologic Manifestations of Homocystinuria Treatment & Management

  • Author: Janette Baloghova, MD, PhD; Chief Editor: Dirk M Elston, MD  more...
 
Updated: Sep 22, 2015
 

Medical Care

The diagnosis should be established as early as possible. Neonates in whom homocystinuria is diagnosed have had a benign course when they are fed on methionine-restricted cysteine-supplemented diets. Cysteine can be supplemented to a maximum of 500 mg/d.

The administration of pyridoxine in high doses (300-600 mg/d) is effective in some patients.

Other possible treatments include the use of folic acid (in pharmacologic doses), betaine (3-methylglycine decreases serum concentrations of homocysteine), or cyanocobalamin, as well as symptomatic supportive measures.

Homocysteine Reduction Formula, a special nutritional supplement created by Brimhall, can also lower homocysteine levels.

In patients with hypothyroidism, treatment with L-thyroxine can normalize homocysteine levels.

Betaine improves metabolic control in B6-nonresponsive patients with homocystinuria after optimum dietary control.[57, 58, 59]

Betaine therapy can precipitate cerebral edema, although the exact mechanism is uncertain. Betaine does raise the methionine level, and cerebral edema can occur when plasma methionine values exceed 1000 µmol/L. Methionine levels must be monitored in patients with cystathionine beta-synthase deficiency who are on betaine; consider betaine as an adjunct, not an alternative, to dietary control.[60, 61]

However, even when patients' serum betaine concentrations are increased by supplementation, serum homocysteine concentrations are often not lowered to the reference range. Following a low-methionine diet that keeps serum methionine within the reference range may be necessary when treating patients with homocystinuria due to cystathionine beta-synthase deficiency when betaine is administered.

Conventional treatment of cystathionine beta-synthase deficiency by diet and pyridoxine/betaine normalizes many, but not all, metabolic abnormalities associated with cystathionine beta-synthase deficiency. The finding of low plasma serine concentrations in patients with untreated cystathionine beta-synthase deficiency may merit further exploration because supplementation with serine might be a novel and safe component of treatment of homocystinuria.

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Surgical Care

Surgical treatment should be considered, especially in patients with pupillary-block glaucoma or in those with recurrent lens dislocation into the anterior chamber. Other ophthalmologic or orthopedic disorders should be corrected.

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Consultations

An ophthalmologist should be consulted for the treatment of repeated lens dislocation, acute pupillary-block glaucoma, and other ophthalmologic disorders.

An orthopedist should be consulted to correct orthopedic disorders.

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Diet

Patients must maintain a diet with limited amounts of protein (1 g/kg) and amino acid mixtures. The diet must be free of protein hydrolysate.

Patients in whom the disease does not respond to pyridoxine supplements must be treated with dietary reductions in methionine and with cysteine supplementation.

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Contributor Information and Disclosures
Author

Janette Baloghova, MD, PhD Lecturer, Dermatovenerologist, Medical Faculty, University of PJ Safarik; Department of Dermatovenerology, University Hospital of L Pasteur, Košice, Slovak Republic

Disclosure: Nothing to disclose.

Coauthor(s)

Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, Rutgers New Jersey Medical School; Visiting Professor, Rutgers University School of Public Affairs and Administration

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, New York Academy of Medicine, American Academy of Dermatology, American College of Physicians, Sigma Xi

Disclosure: Nothing to disclose.

Zuzana Baranova, MD, PhD Senior Lecturer, Department of Dermatology, University of PJ Safarik at Kosice, Slovak Republic

Disclosure: Nothing to disclose.

Specialty Editor Board

David F Butler, MD Section Chief of Dermatology, Central Texas Veterans Healthcare System; Professor of Dermatology, Texas A&M University College of Medicine; Founding Chair, Department of Dermatology, Scott and White Clinic

David F Butler, MD is a member of the following medical societies: American Medical Association, Alpha Omega Alpha, Association of Military Dermatologists, American Academy of Dermatology, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Phi Beta Kappa

Disclosure: Nothing to disclose.

Warren R Heymann, MD Head, Division of Dermatology, Professor, Department of Internal Medicine, Rutgers New Jersey Medical School

Warren R Heymann, MD is a member of the following medical societies: American Academy of Dermatology, American Society of Dermatopathology, Society for Investigative Dermatology

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

Jacek C Szepietowski, MD, PhD Professor, Vice-Head, Department of Dermatology, Venereology and Allergology, Wroclaw Medical University; Director of the Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, Poland

Disclosure: Received consulting fee from Orfagen for consulting; Received consulting fee from Maruho for consulting; Received consulting fee from Astellas for consulting; Received consulting fee from Abbott for consulting; Received consulting fee from Leo Pharma for consulting; Received consulting fee from Biogenoma for consulting; Received honoraria from Janssen for speaking and teaching; Received honoraria from Medac for speaking and teaching; Received consulting fee from Dignity Sciences for consulting; .

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Simplified picture showing homocysteine involvement in different metabolic pathways, as well as the role of vitamins B-6, B-12, and folate as a co-factors in this pathway.
 
 
 
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