Inborn error of metabolism

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Inborn error of metabolism

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  • The neonate is unable to metabolise galactose,
  • Usually present in the neonatal period
  • PAH gene, which encodes phenylalanine hydroxylase, an enzyme required for degradation of phenylalanine.
  • Inborn error of metabolism

    1. 1. INBORN ERRORS OF METABOLISM
    2. 2. INBORN ERRORS OF CARBOHYDRATE METABOLISM
    3. 3. GALACTOSAEMIA  caused by loss-of-function mutations in the GALT gene which encodes galactose-1-phosphate  uridyl transferase.  inherited as an autosomal recessive disorder  Vomiting or diarrhoea usually begins within a few days of ingestion of milk  Failure to thrive is the most common clinical presentation.  hepatomegaly, cataracts and mental retardation  fulminant infection with Escherichia coli is a frequent complication  Treatment involves life-long avoidance of galactose- and lactose-containing foods
    4. 4. GLYCOGEN STORAGE DISEASES  Result from an inherited defect in one of the many enzymes responsible for the formation or breakdown of glycogen  There are several major types of GSD  Most forms of GSD are inherited as autosomal recessive disorders  Different types of GSD present at different ages
    5. 5. DISORDERS OF LIPID METABOLISM  lysosomal storage diseases are disorders caused by loss-offunction mutations in various lysosomal enzymes  inability to break down complex glycolipids  diverse clinical manifestations, typically including mental retardation
    6. 6. Fabry disease:C/F: Variable age of onset. Neurological (pain in extremities) Dermatological (hypohidrosis,angiokeratomas) Cerebrovascular (renal, cardiac, central nervous system) Enzyme deficiency: α-galactosidase A
    7. 7. Gaucher disease:  Splenic and liver enlargement, with variable severity of disease  Some types also have neurological involvement Enzyme deficiency:Glucocerebrosidase Mucopolysaccharidosis (MPS) Hurler’s,Hunter’s,Sanfilippo’s and Morquio’s syndromes): Can cause mental retardation, skeletal and joint abnormalities,abnormal facies, obstructive respiratory diseases and recurrent respiratory infections
    8. 8. Niemann–Pick disease: progressive neurological disorder,accompanied by organomegaly Enzyme deficiency:Acid sphingomyelinase GM2-gangliosidosis ( Tay–Sachs and Sandhoff diseases): Severe progressive neurological disorder, Sandhoff also characterised by organomegaly Enzyme deficiency:Hexosaminidase A, B
    9. 9. DISORDERS OF AMINO ACID METABOLISM
    10. 10. PHENYLKETONURIA inherited as an autosomal recessive disorder caused by loss-of-function mutations in the PAH gene phenylalanine accumulates at high levels in the neonate’s blood causing mental retardation Diagnosis by routine neonatal screening Treatment involves a life-long adherence to a low-phenylalanine diet
    11. 11. HOMOCYSTINURIA  autosomal recessive  loss-of-function mutations in the CBS gene which encodes cystathionine beta– synthase  causes accumulation of homocysteine and methionine in the blood  Clinical manifestations:  eyes :ectopia lentis  central nervous system: mental retardation, delayed developmental milestones, seizures, psychiatric disturbances  skeleton :resembling Marfan’s syndrome, generalised osteoporosis  vascular system:thrombotic lesions of arteries and veins  skin:hypopigmentation.
    12. 12. Diagnosis: through newborn screening programmes Treatment: a methionine restricted,cystine-supplemented diet, as well as large doses of pyridoxine

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