Table 1 Clinical data of affected members in this family with homocystinuria.

From: Novel Compound Heterozygous CBS Mutations Cause Homocystinuria in a Han Chinese Family

Patient number

III:2

III:3

III:4

Age (Year)/Sex1

28/F

26/F

25/F

Onset age (Year)

5

7

5

Eye involvement

Biocular lens dislocation (were extracted 11 years ago); Myopia;Exotropia; Corneal staphyloma; Retinal detachment

Biocular lens dislocation (were extracted 11 years ago); Myopia; Exotropia; Corneal staphyloma

Biocular lens dislocation (were extracted 8 years ago); Myopia; Exotropia; Corneal staphyloma

Skeletal system

Kyphoscoliosis

Arachnodactylies

Arachnodactylies; Kyphoscoliosis; Mild pectuscarinatum

IQ2

Mental retardation; Dysarthria

Mental retardation; Dysarthria

Mental retardation; Dysarthria

Other signs

Pyramidal signs;Ataxia;Unstable gait;Brain atrophy; Malar flush

Pyramidal signs;Ataxia; Unstable gait;Brain atrophy; Malar flush

Pyramidal signs; Ataxia; Unstable gait;Brain atrophy; Malar flush

tHcy3

103

97

86

P-Met4

345

287

295

  1. 1F, female; M, male.
  2. 2IQ, intelligence quotient (assessed at presentation, various tests were used).
  3. 3tHcy, plasma total homocysteine level at presentation (μ mol/L), reference range 5–15 μ mol/L.
  4. 4P-Met, plasma methionine level at presentation (μ mol/L), reference range 20–40 μ mol/L.
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