Amin rare disease children fled their mother no cure

Summer afternoon , Mackay Memorial Hospital, Taipei, catch the old building on 10th floor elevator straight out of the elevator , a turn to neonatal ward , tangy flavor syrup oncoming . Replaced sterile clothing, go directly to the inside of a hospital bed closest , saw " Amin " ( a pseudonym ) eyes glazed ground supine on the inside, right foot forward and occasionally kicking a few.

Boneless sponge like lying only terrifying

Amin is the name of nearly 10 -month-old baby boy , though already had a " seven sit eight to climb " age, like a sponge -like boneless , lying only terrifying . Closer, only six , 170 centimeters short body, it seems like four , five months old kid! .

"His ability to swallow poor, can only rely on tube feeding is not raised ." Neonatal ward nurse Chen Yang Yu said Amin no sucking ability , and believe it is likely to cause aspiration pneumonia choking , so right from the hospital since it can only rely on tube feeding , "Every time I eat a little bit, of course, raise not fat ."

Mackay pediatric neurologist physician Nan-Chang Chiu said Amin suffering is quite rare "non- ketone high glycine hyperlipidemia " (NKH), two months ago, when he was sent to the hospital only when a little bit big , and does not appear the case of epilepsy limbs twitch , right foot pedal forward at every turn , but also occasionally during hiccups . In addition , he was all day staring at a pair of big eyes , glazed ground looking up .

Amin when the doctor turned to my mother a bunk

Amin was abandoned, there are times my mother took him to a hospital for medical treatment when the north , a turn on the bunk , and did not leave any prenatal care and production records , of course, finding a family history . When he was transferred to Mackay social welfare organizations , the Nan-Chang Chiu is really a head two large , how come it can not diagnose the real cause .

Suddenly, Nan-Chang Chiu recalls one case last year, the hospital also encountered a small hiccup both epilepsy and patients , so by tandem mass spectrometry , blood testing Amin body fatty acids, amino acids and organic acids , was surprised to find his glycine unusually high , and thus confirmed the high non- keto acid hyperlipidemia.

According to the literature , non- ketone high glycine hyperlipidemia in patients with the longest survival period of about 10 years , mostly in a birth , and death within two years . Amin due to late diagnosis out of the deposition amount of glycine too , the situation is not very optimistic. Mackay , director of pediatric genetic Lin Xuan Peitan words , they can only make personnel , " then , to see his own good fortune ."

The amount of glycine is accumulated to the end of life

Shuan-Pei Lin said that children with metabolic like Amin has a problem, can not successfully metabolize glycine constantly deposited on the brain, the gradual destruction of brain nerve , thus causing involuntary twitching of limbs epilepsy, and the combined intellectual impairment , developmental retardation and other circumstances . When glycine accumulated to a certain amount, their lives have come to an end .

Chen Yang Yu very distressed to say that sometimes see him staring at a pair of big eyes staring at the ceiling to see , they always try to close and whisper his name , but no matter how shouting , Amin is no response , at most, moving the hands and feet few.

Care rotating joint venture to buy the card hanging on the bed

Nevertheless, this small reaction , which have allowed nurses to take care of his excitement waited a long time , so the joint venture will buy animal shapes rotating cards, hanging on the bed, turn on the switch as long as one of these cute animals will turn ah , but also issued a wonderful music . " Maybe he can see , hear it ! " Chen Yang Yu will put Amin in his arms, Shanghai Triad , " they might come good he really would suddenly blanket ! "

However, this is little chance . Pei said Nonketotic high glycine hyperlipidemia has no cure , the medical community is currently available only through one kind of cough medicine special ingredients to reduce glycine in the blood and cerebrospinal accumulation , slowing the rate of deterioration of symptoms , but ultimately can not escape the call of death . During this time, waiting for the end of life , social welfare units have been arranged Amin admitted to a care facility in northern , receive proper care .

News Dictionary " non- ketone high glycine hyperlipidemia

Non- keto high glycine hyperlipidemia refers to the body of glycine (glycine) diseases caused by excessive concentrations . Its pathogenesis is glycine cleavage system defects , resulting in degradation of glycine , can not properly metabolized by the body . Once deposited in the brain and spinal cord inside a large , will destroy the brain , triggering involuntary twitching limbs like epilepsy , hiccups, concurrent growth retardation. Since there is still no effective treatment , most children with a birth , death within two years .

Non- keto high glycine hyperlipidemia is autosomal recessive genetic disease , the next child 's chance of recurrence is fourth . Its prevalence is still unclear , northern Finland was estimated every 10,002 thousand patients may have a probability of occurrence , then the lack of relevant statistical data in Taiwan , has found only a few sporadic cases.