Inborn errors of metabolism are rare genetic disorders in which the body cannot properly turn food into energy.

1. INBORN ERRORS OF
METABOLISM
DR.V.JEYANTHI KUMARI,
ASSISTANT PROFESSOR OF ZOOLOGY,
A.P.C.MAHALAXMI COLLEGE FOR WOMEN,
THOOTHUKUDI-2
TAMIL NADU.

2. Metabolic disease due to the presence of recessive
genes from birth is called inborn error metabolism
Coined-Grand-1909
3 types
1.Phenylketonuria
2.Alkaptonuria
3.Albinism

3. • PHENYLKETONURIA
• Hereditary disease
• Recessive gene pp
• No production-phenylalanine hydroxylase
• Phenylalanine hydroxylase
• Phenylalanine Tyrosine
• P.alanine derivatives like phenyl pyruvic acid. Phenyl
acetic acid accu in blood, csf
• Excess in urine
• Child called phenyl pyruvic idiots.
• Mental defeat, feeble mindedness, etc.

4. • ALKAPTPNURIA
• hh
• The accumulation of alcapton (homogentistic
acid)
• No-homogentistic acid oxidase
• No conversion of alcapton to acetoacidic acid
• Accumu in blood
• Urine turn black
• homogentistic acid
oxidase
• P.alanine……>Tyrosine…>Alcapton….>Aceto
acetic acid

5. ALBINISM
• aa
• tyrosinase
• Ph.alanine…>tyrosine……….. Melanin….>normal