Homocystinuria and oral health. A report of 14 cases.

• The aim of this study was to explore the oral health in Swedish individuals with the diagnosis of homozygote cystathionine beta synthase-deficient homocystinuria (HC), a rare disorder of amino acid metabolism affecting connective tissue, in which the phenotypic abnormalities include dislocation of the optic lens, skeletal abnormalities, thromboembolic events, and sometimes mental retardation. Further aims were to evaluate the oral findings against previous oral observations in a medical case report, such as high narrow palate, mandibular prognathia, crowding and early eruption of teeth. Every hospital in Sweden was contacted, with the inquiry of patients with diagnosis of HC,which resulted in 14 individuals participating in oral clinical examination. The oral findings evaluated against previous medical case reports showed to be partly in accordance with previous observations. Dental health showed to be compromised in a majority of cases. Together with the fact that methionine restriction (low-protein diet) is involved in the treatment of the condition and might result in a diet high in sugars, this points out the role of regular dental checkups and preventive oral care for individuals suffering from HC. In addition, short dental roots were a finding not previously reported in the literature. All the studied cases had central maxillary incisors with short roots, when compared to reference values used.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Odontologi (hsv//swe)

MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Dentistry (hsv//eng)

Nyckelord

Adolescent

Adult

Aged

Anodontia

etiology

Cephalometry

Child

Dental Care for Chronically Ill

Dental Enamel

abnormalities

Diet

Protein-Restricted

Female

Homocystinuria

complications

diet therapy

genetics

Homozygote

Humans

Incisor

abnormalities

Male

Malocclusion

etiology

Middle Aged

Odontometry

Prognathism

etiology

Tooth Diseases

etiology

Tooth Root

abnormalities

Oral health

Publikations- och innehållstyp

ref (ämneskategori)

art (ämneskategori)