6.Abnormal hair found in infants who suffer from
metabolic error.
7.Various skin disease occur due to metabolic
error. Also with skin disease steriod sulphatase
deficiency occur.
8.In some case kidney stones are seen ,also
kidney cyst are found.
9.In case of heart glycogen storage disorder is
found ,fatty acid oxidation defects are seen.
10.A large majority of errors of metabolism cause
mental retardation
a) Disorder mainly affecting cerebrum
b) Also affect cerebellum, brain stem, spinal cord
c) Affect cranial and peripheral nerve.
11.Some patients develop hyperbilirubinemai and
hemorrhages, the latter due to a deficiency of
plasma coagulation. Growth is retarded. Sometimes
death occur by age of 10 years.
12.In some inherited disorder due to deficiency
of enzymes, skin is depigmentes. It does not tan
burns on exposure of sunlight hair is white and
silky in texture. In such case when light passes
through the iris causing photophobia.
13.Due to disorder of metabolism of sulphur
containing amino acid, patient develop subluxation
of the lens ,recurrent thromboemboilc in the arties
and veins, convulsion, mental retardation. It
sometimes cause lesion of the lens.
14.In case of some disease such as maple syrup
urine disease child born normal. Symptoms of poor
feeding, lethargy and vomiting appear within the
first week of life. Progressive degeneration of the
nervous system. In such case death occur within 1st
week or month.
15.Due to cystinosis metabolic disorder crystal
are deposited in the cornea,bone marrow and
leukocytes. In such case children's do not thrive
well and death occur due to renal failure before the
patient is ten years old.
16.Wilsondisease is intrahepatic defects in
metabolic of copper. In such case children's are
generally older and present with symptoms of basal
ganglia involvement, rigidity tremors difficulty in
speech, poor handwriting and abnormal posture. Some
time liver may be enlarged.
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