Investigations revealed an aminoacid metabolism disorder

Homocystinuria

Inheritance
Autosomal recessive

Clinical manifestations
●Infants with this disorder are normal at birth
●Nonspecific manifestations like failure to thrive and developmental delay
●Diagnosis is usually made after 3 years of age when ectopia lentis occurs
●This causes severe myopia, iridodonesis, astigmatism, glaucoma, cataracts, retinal detachment and optic atrophy may develop later in life
●Progressive mental retardation is common
●Skeletal manifestations resmebling marfan syndrome
●Thromboembolic episodes may occur at any age

Laboratory findings

■Aminoacid screen of blood and urine shows elevated methionine, homocysteine
■Total plasma homocysteine elevated
■Cystine low or absent

Other investigations

●Liver biopsy and enzyme assay
●Skeletal X ray
●Skin biopsy or fibroblast culture
●Genetic testing

Treatment

●High doses of Vitamin B6
●Cysteine deficiency must be made up from dietary sources
●Supplementation with pyridoxine,folicacid,B12, betaine reduces homocysteine concentration in blood