PKU (phenylketonuria)

wiki: PKU

想知道更多關於PKU.媽媽把瞌睡蟲趕走,不過瞄了wikipedia的解說,媽媽的瞌睡蟲都嚇跑了.

Phenylketonuria (PKU) is an autosomal recessive metabolic genetic disorder characterized by homozygous or compound heterozygousmutations in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional.^[1]:541This enzyme is necessary to metabolize the amino acid phenylalanine (Phe) to the amino acid tyrosine (Tyr). When PAH activity is reduced, phenylalanine accumulates and is converted into phenylpyruvate (also known as phenylketone), which can be detected in the urine.^[2]

Tyrosine.看到這個,媽媽一驚!

稍微冷靜媽媽就翻看以前的報告.

喔~以前在GH做過這個Amino acids & Acylcarnitines test.那時候2012.05.14抽血.你當時是GFCF diet.結果: Phe 42.49umol/L, Tyr 30.03umol/L 正常值.Phe/Tyr 1.41那麼可以排除PKU,是吧?!?

Tyrosine這個問題嘛~MTFHR; OAT 報告, 都有flag!

啊~不管啦!是時候媽媽該去充電了.

明早還要備餐,弄蔬果汁.沒得賴床!