metabolic inborn errors
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- 1. MEATABOLIC INBORN ERRORS PRESENTER : #2013-02-095 / GIA K. SHARMA INSTRUCTOR: DR. TOLUNIMI ADEDEJI [M.D.] CENTRAL AMERICA HEALTH SCIENCE UNIVERSITY, BELIZE July 10 2013 BIOCHEMISTRY ASSIGNMENT
- 2. INDEX METABOLIC INBRON ERRORS PHENYLYKETONURIA MAPLE SYRUP URINE DISORDER HOMOCYSTINURIA TYROSINEURIA TYROSINEURIA TYPE 1 TYROSINEURIA TYPE 2 TYROSINEURIA TYPE 3 GALACTOSEMIA GALACTOSEMIA TYPE 1 GALACTOSEMIA TYPE 2 GALACTOSEMIA TYPE 3 POMPES DISEASE ANDERSONS DISEASE VON GIERKES DISEASE GRAVES DISEASE
- 3. METABOLIC INBORN ERRORS Inborn errors of metabolisms, is a group of disorders where a single gene defect causes a block in the metabolism. It is caused by the defect in the enzymes that metabolize: Proteins Carbohydrates Lipids Fats
- 4. Amino acid Metabolic Disorders Phenylketonuria Maple syrup urine disease Homocystinuria Tyrosineuria Carbohydrates Metabolic Disorders Galactosemia Glycogen storage disease type 1 Glycogen storage disease type 2 - Pompe Disease Glycogen storage disease type 4 Defects of glucose homoeostasis - 20 Defects of amino acids - 10 Defects of fatty or organic acids - 20
- 5. Defects of Lactate and others - 20 Every child with unexplained Neurological deterioration Metabolic acidosis Hypoglycemia Inappropriate ketosis Hypotonia Cardiomyopathy Hepatocellular dysfunction Failure to thrive Phenylketonuria Also known as PKU Deficiency of Phenylalanine hydroxylase [PAH]
- 6. Sign and Symptoms - Mental Retardation Mousy odor Eczema Vomiting Fair skin Treatment- Low phenylalanine diet
- 7. Case presentation A 30 year old female named Ann had delivered her child having symptoms like phenyl ketones in blood which was checked under screening test for phenyl ketonuria. They also found that phenyl pyruvate is present in urine. History: parents have no evidence of having phenyl ketonuria but child grandmother has same diseases (suggest the diseases are autosomal recessive) Symptoms and cause of symptoms Lack of neural reflexes: because of degeneration on neural tissue by phenyl ketone accumulation microcephally: because of degeneration on neural tissue by
- 8. phenyl ketone accumulation presence of phenyketones in blood : lack of enzyme phenyl alanine hydroxilase Diagnosis: maternalphenyalketonuria Treatment If PKU is diagnosed early enough, an affected newborn can grow up with normal brain development, but only by managing and controlling Phenyle ketone levels through diet, or a combination of diet and medication. Optimal health ranges (or "target ranges") are between 120 and 360 mol/L, and aimed to be achieved during at least the first 10 years PKU patients must adhere to a special diet low in Phe for optimal brain development. "Diet for life" has become the standard recommended by most experts. The diet requires severely restricting or eliminating foods high in Phe, such as meat, chicken, fish, eggs, nuts, cheese, legumes, milk and other dairy products. Starchy foods, such as potatoes, bread, pasta, and corn, must be monitored. Infants may still be breastfed to provide all of the benefits of breast milk, but the quantity must also be monitored and supplementation for missing nutrients will be required. The sweetener aspartame, present in many diet foods and soft drinks, must also be avoided, as aspartame consists of two amino acids: phenylalanine and aspartic acid.
- 9. Maple Syrup Urine Disease It is also known as MSUD and It is an inherited, as it is passed from parent to child. It is autosomal. The defective gene is located on an autosome. Majority of people that get MSUD are Caucasian. It affects the Blood Brain Urine, thou is does not affect any specific organs but brain. It usually affects babies from all age. Older infants require a diet not consisting of Eggs, Nuts and Meat. If the baby is not treated or screened, the baby will die in months.
- 10. Diagnosis/Detection To determine if someone has MSUD, you have to look the urine odor for a sweet smell. Blood test for amino acids. If alloisoleucine is detected, the diagnosis is confirmed. Deficiency of Branched chain alpha keto acid dehydrogenase complex (BCKDC) Sign and Symptoms- Maple syrup odor Dehydration Hypoglycemia Ketoacidosis Coma Brain damage (if untreated) Vomiting Lethargy [lack of energy] There is no cure for MSUD, however a special diet cant help prevent these health problems. Treatment- High doses of Thiamine
- 11. Diet with minimal levels of-Leucine Valine
- 12. Homocystinuria CBS deficiency Homocystine accumulates in the urine. It builds up to toxin levels in the body due to the CBS deficiency. It is a very rare disease that affects about 200,000 to 300,000 babies born. It occurs in almost all ethnic groups. Diagnosis It is confirmed by measuring the levels of amino acids in the blood and urine. Levels of total homocystine and methionine will be elevated while the level of cystine will be decreased. CBS enzyme ang genetic testing can also be used to confirm the diagnosis. Deficiency of- Methionine and often involving Cystathionine beta synthase
- 13. Sign and Symptoms- Flush around cheeks Methione in urine Knock knees Treatment- Not specific but sometimes Low diet in Methionine Vitamin B6, B12, Betaine and Folic acid supplement is given. The special diet can lower the risk.
- 14. Tyrosinemia Mutations in the gene for fumarylacetoacetase [FAH] result in enzyme that is not working well or it is deficient. It is a genetic disorder characterized by elevated blood levels of the amino acids tyrosine. It is also known as Hypertyrosinemia, type 1 and type 2 . Type 1 Deficiency of Fumarylacetoacetate hydroxylase Type 2 Deficiency of Tyrosine aminotransferase Clinical features: Involve only skin, eyes and CNS which may lead to excessive tearing, photophobia, eye pain and redness and skin lesions.
- 15. Type 3 Deficiency of 4-Hydroxyphenylpyruvate dioxygenase Clinical features: It is not well known. Elevated tyrosine levels in a healthy newborn with no liver, renal and skin abnormalities. Risk factors include prematurity, high protein intake and deficient intake of Vitamin C. Sign and Symptoms- No weight gain Jaundice Nose bleed Liver / kidney failure Liver cancer risk Painful skin
- 16. Red eyes Treatment- Liver transplant Low diet in phenylalanine, methionine and tyrosine.
- 17. Galactosemia Lactose is the main carbohydrate in breast milk and most non-soy infant formulas and is broken down into glucose and galactose in the intestine. Individuals with galactosemia are not able to utilize galactose because an enzyme, called GALT (galactose-1-phosphate uridyl transferase), is defective or deficient. This leads to an accumulation of galactose and other harmful substances in the blood and urine, which can cause serious health problems. Some individuals have a milder form of the condition in which there is some GALT activity. What is its incidence? The incidence of classic galactosemia has been estimated to be approximately 1 in 60,000, although the numbers will vary according to different sources. What causes the disease? Mutations in the GALT gene produce an enzyme with deficient activity. What are the clinical features of the disease? Although babies with galactosemia are normal at birth, they may have serious problems without treatment. The inability to metabolize galactose can result in life-threatening complications including hypoglycemia, feeding problems, failure to thrive, liver damage, lethargy, bleeding, and sepsis. Even with early treatment, however, children with galactosemia are at increased risk
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