Maple Syrup Urine Disease Trushna Shah l Maple

Maple Syrup Urine Disease Trushna Shah

l Maple Syrup Urine Disease is a genetic disease in which the amino acids leucine, isoleucine and valine cannot be broken down by branched-chain alpha-keto acid dehydrogenase.

Background l Inherited disease l Occurs in infants within the first few days of birth l Results in mental retardation/death l Varying forms l 1 in 185, 000 infants l Much higher prevalence in Amish

What is MSUD? l Urine has “burning sugar/maple syrup” odor l Symptoms ¡ Vomiting, dehydration, lethargy, seizures, pancreatis… l Unable to process amino acids ¡ Leucine, isoleucine, valine ¡ Products build up, as well as their toxic by-products in blood and urine -If untreated, will lead to death, coma, neurological decline

l Symptoms occur in newborns within the first four to seven days of birth. l Infants with this disease have poor feeding habits. l Vomiting l Infants show poor weight gain due to improper feeding. l Increased lethargy – deep sleep, sluggish l Sweet smell to urine is the major characteristic symptom for this disease. l Muscle spasms and seizures l Could lead to death if not treated, but is manageable.

Evidence 1 l Clinical and Biochemical Profiles of Maple Syrup Urine Disease in Malaysian Children l Z Md. Yunus, DP Abg Kamaludin, M Mamat, Y S Choy, and LH Ngu

Author/year Study design Level Results Outcome Clinical and Biochemical Profiles of Maple Syrup Urine Disease in Malaysian Children Z Md. Yunus, DP Abg Kamaludin, M Mamat, Y S Choy, and LH Ngu Meta analysis High level A total of 12, 728 plasma and urine samples from patients suspected of having IEM were received from physicians all over Malaysia. Twentyfive patients were diagnosed MSUD. Nineteen patients (76%) were affected by classical MSUD, whereas six patients had non-classical MSUD. Delayed diagnosis was common among our case series, and 80% of patients had survived with Our findings suggested that MSUD is not uncommon in Malaysia especially among the Malay and early laboratory diagnosis is crucial

What genes are affected? l BCKDHA (chr 19) ¡ Branched chain ketoacid dehydrogenase l BCKDHB (chr 6) l DBT (chr 1) l DLT (chr 7) l All work to create proteins for complex l Autosomal recessive

Testing l Urine amino acid test ¡ Valine l Children: 17 to 37 l Adults: 19 to 74 ¡ Leucine l Children: 9 to 23 l Adults: 20 to 77 ¡ Isoleucine l Children: 3 to 15 l Adults: 4 to 23 l Plasma amino acid test ¡ Chromatography ¡ Baby should not eat for 4 hours before

What is Albinism? l Albinism is a genetic disorder that affects your melanin production so your skin and hair lack color. l Tyrosinase enzyme is deficient l Some symptoms you can look for include: l -Lack of color in hair, skin and eyes l l -Patchy skin color -Light sensitivity -Crossed eyes -Rapid eye movements

Treatments for Albinism l Albinism is a genetic disorder, so not much can really be done to treat it. l Surgery may be done to improve your vision. l Some home remedies include using vision aids such as magnifiers, using sunscreen, wearing protective clothing, and protecting your eyes.

Does Albinism Spread? l Albinism is spread through the parents to the child. l However, it does not spread from person to person or does not spread inside the body.

Albinism

AMINO ACID DISORDER (CONT. ) Homocystinuria: METHIONINE Cysathionine Synthatase Cystathionine

DIAGNOSIS: HIGH METHIONINE AND HOMOCYSTINE. TREATMENT: Ø High dose of B 6 and Folic Acid. Ø Low methionine and high cystine diet, Ø Betain (trimethylglycine)