Real Stories
Early Detection of Maple Syrup Urine Disease (MSUD)*, November 2015, Bali, Indonesia
*Actual case detected by MetascreenTM
Baby Lina was warded into the neonatal intensive care unit showing signs of muscle weakness, low breathing rate, low cortisol, poor feeding and dehydration (dehydration). The cause of the disease was then unknown. Through MetascreenTM, elevated metabolites associated with abnormal metabolism of Leucine, IsoLeucine and Valine consistent with MSUD, was detected in the urine of Baby Lina. After Baby Lina was given special formula milk designed for children with MSUD, Baby Lina gained weight and was in a stable condition.
Did you know: Maple Syrup Urine Disease (MSUD) affects one in every 101,624 people among Asian. 1
Early detection for effective disease management - Citrullinemia type 1
Source: What is Citrullinemia? (a urea cycle disorder) and some answers to frequently asked questions.
Corrigan, now 7, enjoys his time splashing in the inflatable pool, something his parents never knew possible. As soon after birth, he was diagnosed with Citrullinemia. Appearing normal and healthy at birth, Corrigan’s ammonia levels crept up shortly after birth, with several vomiting episodes followed by progressive lack for energy (lethargy) which set off the alarm that something was not right. A random guess and confirmation through a newborn screening test, Corrigan’s diagnosis of Citrullinemia type 1 allowed for immediate treatment at John Hopkins University. To this day, though Corrigan suffers from periodic stays in hospital due to hyper-ammonia or weaken immune system, he benefits daily from medicine, management and restriction of diet through arginine supplementation.
Did You Know: CIT type I affects about one in 57,000 people worldwide, and, CIT type 2 can affect one out of 20,000 people in Asia.
Early detection allows for timely intervention- Phenylketonuria (PKU)
Living On 7 Grams Of Protein A Day
At birth, Eli was diagnosed with Phenylketonuria (PKU), that is, he lacks an enzyme in his liver that does not properly break down the amino acid, phenylalanine (Phe), commonly found in proteins. He doesn’t eat meat nor dairy, bread or pasta so as to maintain the diet of 7 grams of protein a day. Having to count everything Eli consumes is no easy feat, taking into account the special Phe-free diet and monthly blood draws to make sure his Phe levels are in a safe range. Yet there is a silver lining to the whole situation, PKU is treatable and none of those bad things will happen as long Eli maintains the diet of 7 grams of protein a day.
Did you know? Phenylketonuria (PKU) affects one in every 14,515 people among Asian population.1
Lauren’s Phenylketonuria (PKU) Story
Phenylketonuria (also known as PKU) is a congenital disorder that increases the levels of phenylalanine in the blood. Phenylalanine is the building block of proteins that are obtained through dietary intake of food such as meat, fish, beans, eggs and some artificial sweeteners;
If left untreated, phenylalanine can build up to harmful levels in the body, causing permanent intellectual disability and other serious health problems;
Affected infants usually become apparent by 6 months of age with signs of mental retardation.
IEMs may be silent killers – Medium Chain acyl-CoA dehydrogenase deficiency (MCAD)
This story is shared by a family who lost a child to MCAD
On February 19, 1998, Ben, a full-term, healthy and normal baby joined the Haygood family. During his brief 2 and half years of life, Ben was thought to be a typical child. He was growing and developing normally. Little did the family realize that a ‘silent killer’ was present in Ben. With no other signs such as fever, Ben became ill with vomiting. In just hours, Ben became unresponsive, stopped breathing and his heart stopped beating. Efforts to resuscitate him were unsuccessful. The apparent healthy child had passed away within 12 hours of showing symptoms of illness. After his death, doctor had speculated about the cause of Ben’s death for a month and though an autopsy, Haygood family learnt of Ben’s real cause of death, MCAD. Adding to their devastation, about a week after the diagnosis, they learnt that his disorder could have been detected at birth, or any other time before his fatal crisis, with a simple metabolic test. With an early diagnosis, Ben could have prevented the signs and symptoms of MCAD from manifesting.
Did You Know?
Medium Chain acyl-CoA dehydrogenase deficiency (MCAD) affects about one child in every 660,562 people among Asian population1.
Matthew’s Fight against Primary Hyperoxaluria
Matthew was born in February 2011 with a rare genetic disorder called Primary Hyperoxaluria Type 1. This was difficult for the family as Matthew’s sister has the same condition, though she had not experienced serious symptoms. However, Matthew were suffering serious symptoms which affected his liver as well as his kidney and he has been on dialysis at least 6 days a week since he was 5 months old. However, all the medications and dialysis did not improve Matthew's liver and kidneys. Finally, he got liver and kidney transplant on 2013.
Tyrosinemia Type I - Joshua
Tyrosinemia Type I is a type of amino acid disorder characterised by the lack of fumarylacetoacetate hydrolase (FAH), an enzyme required to breakdown the amino acid tyrosine; If left untreated, the condition can potentially result in a wide variety of symptoms including liver & kidney failures, developmental delays, increased risk of liver cancer, etc.
Battling with Canavan disease
Canavan disease is a progressive and fatal cerebral degenerative disease that begins in infancy. This inherited genetic abnormality is caused by mutations in the gene for an enzyme which causes deterioration of the white matter (myelin) in the brain
Symptoms such as mental retardation, lack of head control etc, usually become noticeable at the age of three to nine months old. Many children do not live past age 10.
Although there is currently no cure for Canavan disease, the present treatment involves managing the symptoms.
Symptoms such as mental retardation, lack of head control etc, usually become noticeable at the age of three to nine months old. Many children do not live past age 10.
Although there is currently no cure for Canavan disease, the present treatment involves managing the symptoms.
References:
- The Chinese University of Hong Kong (CUHK), Centre of Inborn Errors of Metabolism Statistics, http://www.obg.cuhk.edu.hk/wp-content/uploads/JHF_iem_30_list.pdf, Accessed on Oct 2015
- Sacramentoparent.com, Matthew’s story: Life through organ donation. http://www.sacramentoparent.com/matthews-story-life-through-organ-donation.html Accessed on June 2015