Saleh Al-Sada – Propionic Acidemia

Learn about Saleh's experience with Propionic Acidemia at Children's Hospital.

A 7,000-mile journey to Children’s Hospital of Pittsburgh of UPMC enabled 8-year-old Saleh Al-Sada from the Persian Gulf country of Qatar to receive the vital organ transplant needed to save his life. Yet the curative solution was always as near to him as his mother.

Young Saleh was suffering from heart failure, an exceptional consequence of a rare inherited metabolic disorder. The transplant that would restore his cardiac health involved not the heart, but the liver, and his mother Manal, a viable candidate, stepped forward to provide a portion of her own organ for her son.

Mrs. Al-Sada’s gift has enabled Saleh’s heart to heal and his metabolic condition to improve, and her own liver function is now fully restored. It is an example of how a living-donor liver transplant can provide a life-saving alternative for young children with serious metabolic conditions.

Metabolic Disorder

Saleh and his fraternal twin, Mohammed, who does not have the condition, were born in 2007 in Doha, Qatar. Doctors quickly diagnosed Saleh’s condition, known as propionic acidemia (PA), a potentially life-threatening disorder that presents quickly in stricken infants through poor feeding, lack of appetite, vomiting, lethargy and weak muscle tone.

As a recessive genetic disorder, PA occurs when a specific faulty gene is inherited from both parents. In people with the condition, the body is unable to break down certain amino acids and fats, which can lead to a buildup of harmful organic acids and toxins in the blood. If not carefully managed, metabolic crises can occur. More commonly, these can be neurological and may include seizures. Less frequently, cardiac problems have been reported. To help manage the condition, patients are treated with low-protein diets, special formulas and antibiotics.

“He was very sick from the time he was born, and his disease is complicated,” said Mrs. Al-Sada. Saleh’s doctors eventually found a formula suitable for him, but he did not grow for the first month of his life, she said. In his first year, a gastrostomy feeding tube was required for nutrition and medications – something Saleh used up to and even beyond his transplant surgery.

Through the age of 4, Saleh’s health and nutrition issues required frequent hospital visits. By the time he was 5, he stabilized, started to eat, gained weight, and attended school. In spite of his PA, things seemed to go well for the next two years. Like other boys his age, Saleh enjoyed playing basketball, tennis and video games, his mother said, until at the age of 7 he had an inexplicable episode of rapid deep breathing that required medical attention. Doctors said his lungs were good, but found he had developed cardiomyopathy, a condition where the heart is significantly enlarged, weakened, and cannot pump blood efficiently. The physicians initially did not believe his PA was to blame, suspecting instead that it was related to a virus or other cause. Eventually, specialists determined that the roots of Saleh’s cardiomyopathy were indeed metabolic.

“One of the complex complications of propionic acidemia is cardiac disease, which has been reported to get better with liver transplantation,” said Children’s Hospital’s Director of Pediatric Transplantation, George V. Mazariegos, MD, FACS, an expert in the field of liver transplantation as a cure for metabolic disease, whose team ultimately performed Saleh’s liver transplant.

Doctors in Qatar initially tried to manage Saleh’s condition with heart medication. “His condition did not change,” said his mother. “He had high blood pressure, rapid heartbeat, weakness, and sweated at night.” Eventually, doctors advised the family that a liver transplant might benefit Saleh. Aware of Children’s reputation in liver transplantation for metabolic disease, Saleh’s doctors consulted with Dr. Mazariegos and then recommended that the Al-Sadas bring their son to Pittsburgh. They cautioned that the waiting time for a donor could be long – possibly a year or more. Concerned about her son’s frail condition, Mrs. Al-Sada asked if she could serve as the donor to expedite transplantation.

“We had recommended that it would be advantageous for the patient to come with a living donor,” said Dr. Mazariegos. “We were glad to hear that his mom was considering that.”

Although Mrs. Al-Sada, like her husband Badr, is a carrier of the defective gene that resulted in her son’s PA, she does not have the condition, and her own liver functions normally.

Transport for Transplant

Learn about Saleh's experience with Propionic Acidemia at Children's Hospital.Coordination with Children’s International Services team was initiated, and in 2015 the family, including an older brother, Abdulla, arrived in Pittsburgh. Saleh and his mother were evaluated, and preparation for the procedures began. Mrs. Al-Salah’s surgery was done at UPMC Presbyterian. The portion of the left lobe of her liver that was removed was rushed to Dr. Mazariegos and his waiting team at Children’s.

The most difficult part of her own surgery, Mrs. Al-Sada said, was waiting for a week before she was discharged and could see her son in the Pediatric Intensive Care Unit at Children’s. Saleh’s surgery was more complex, and recovery took longer, requiring an extended period of sedation and temporary use of a ventilator to assist his weak lungs while his heart got stronger. However signs of cardiac improvement were already evident after the first week, she said.

After two months, Saleh’s recovery had progressed to the point that he was discharged to the Children’s Home of Pittsburgh near Children’s Hospital, again with the support of Children’s International Services team. There, physical and occupational therapy was started to help him regain strength he had lost through his illness and surgical recovery.

When his progress permitted, Saleh and his family moved to an apartment in Pittsburgh, and he continued to visit the hospital for physical and occupational therapy and for check ups with Children’s specialists. Mrs. Al-Sada was initially nervous about having the responsibility to administer Saleh’s many medications following his discharge, but said that after a few days it became routine.

The Path Home

Six months after surgery, his cardiac condition and breathing were significantly improved, and his liver function was normal.

“The heart is not normal for his age, but it is much better,” said Mrs. Al-Sada at that time. “Each month they do an echocardiogram and we see the improvement. The heart is stronger and smaller. His heart rate and blood pressure have been stable for a long time.”

As PA is a systemic disease, liver transplant does not cure the patient of the condition. “However, the pathways of the organic acids are present to a large degree in the liver, so treatment of it significantly improves with liver transplantation,” Dr. Mazariegos said, adding that Saleh’s metabolic control in terms of his dietary restrictions has improved with the transplant, and he is being weaned from his medications.

Mrs. Al-Sada’s left lobe will completely regenerate over time, and the portion transplanted into Saleh will grow and develop as if it was his original liver, Dr. Mazariegos explained.

Liver transplantation as a treatment for pediatric metabolic diseases is increasingly proving to be a viable option – one where Children’s Hospital has a proven record of success. With related living-donor transplantation, parents and family members can often be the donors, resulting in more positive outcomes due to shortened wait times and better genetic matching from healthy living donors.

According to Dr. Mazariegos, Saleh’s case was innovative from the standpoint of using the liver of a donor who was also the carrier of a gene that caused the metabolic disorder, even though the mother did not have the condition.

“It opens up an alternate option,” Dr. Mazariegos said.

While looking forward to their eventual return to Doha, Mrs. Al-Sada had high praise for her Children’s Hospital experience, especially in view of their lengthy stay. The focus on children in the hospital setting is unlike anything in Doha, and the individual focus on Saleh, particularly from the nursing staff made the difference, she said.

“They did a good job taking care of me and my son. The nurses think of everything. So many people here were very nice.”

Today, she said, her hope for her son is that he may grow up to become a doctor – like the many who were so instrumental in saving his life.