Humans ; Infant, Newborn ; Metabolism, Inborn Errors ; diagnosis ; therapy

Adolescent ; Female ; Humans ; Lipid Metabolism, Inborn Errors ; diagnosis ; therapy ; Muscular Diseases ; diagnosis ; therapy

Diet ; Eating ; Genetic Therapy ; Hemofiltration ; Humans ; Metabolism, Inborn Errors ; genetics ; therapy ; Transplantation

Amino Acid Metabolism, Inborn Errors ; etiology ; therapy ; Glutarates ; blood ; Humans ; Infant, Newborn ; Male

China ; Humans ; Infant, Newborn ; Metabolism, Inborn Errors ; diagnosis ; therapy ; Neonatal Screening ; Phenylketonurias ; diagnosis ; Tandem Mass Spectrometry

Amino Acid Metabolism, Inborn Errors ; complications ; therapy ; Anemia, Macrocytic ; etiology ; Humans ; Infant ; Male

OBJECTIVES: To summarize the clinical characteristics and nutrition therapy for children with lysinuric protein intolerance (LPI). METHODS: The clinical manifestations, laboratory test results and enteral nutrition treatment in a girl with LPI diagnosed in Xiangya Hospital, Central South University were retrospective analyzed. Additionally, the data of the children with LPI reported in China and overseas were reviewed. RESULTS: A case of 4-year-old girl was presented, who exhibited significant gastrointestinal symptoms, such as chronic abdominal distension, prolonged diarrhea, recurrent pneumonia, and limited growth. She had a poor response to anti-infection treatment. After receiving enteral nutrition therapy, she did not experience any gastrointestinal discomfort, and there were improvements in the levels of hemoglobin, albumin, and blood ammonia. Unfortunately, due to serious illness, she declined further treatment and later passed away. A total of 92 cases of pediatric patients with LPI have been reported to date, including one case reported in this study. Most children with LPI experienced disease onset after weaning or introduction of complementary foods, presenting with severe digestive system symptoms, malnutrition, and growth retardation. It is noteworthy that only 50% (46/92) of these cases received nutritional therapy, which effectively improved their nutritional status. Among the 92 children, 8 (9%) died, and long-term follow-up data were lacking in other reports. CONCLUSIONS LPI often involves the digestive system and may result in growth restriction with a poor prognosis. Nutritional therapy plays a crucial role in the comprehensive treatment of LPI.
Child, Preschool ; Female ; Humans ; Amino Acid Metabolism, Inborn Errors/therapy* ; Enteral Nutrition/methods* ; Malnutrition ; Retrospective Studies

Rapid ammonia elevation in blood with accompanying mental change should be considered as a true medical emergency. In such a case, action leading to immediate diagnosis and the earliest possible treatment must occur in order to minimize permanent brain damage. Hyperornithinemia- Hyperammonemia-Homocitrullinuria (HHH) syndrome is a rare inborn errors of metabolism and autosomal recessive metabolic disorder caused by a deficiency of the mitochondrial ornithine transporter at the cellular level. Emergency physicians should take account of the possibility of HHH syndrome in patients with unreasonable hyperammonemia coupled with altered mental status. We report a case of a 59-year old man who presented with headache, nausea, vomiting and altered mental status. His serologic test showed hyperornithinemia, hyperammomemia, and homocitrullinuria. He was treated with fluid therapy and hemodialysis. His clinical manifestation improved and he was discharged after hemodialysis
Amino Acid Transport Systems, Basic ; Ammonia ; Brain ; Emergencies ; Fluid Therapy ; Headache ; Humans ; Hyperammonemia ; Metabolism, Inborn Errors ; Nausea ; Ornithine ; Renal Dialysis ; Serologic Tests ; Urea Cycle Disorders, Inborn ; Vomiting

Issues pertaining to the diagnosis and management of inborn errors of metabolism (IEM) in Malaysia included low awareness of atypical and variable presentations in IEMs leading to delayed diagnosis or treatment, absence of reliable population data on IEMs and involvement of multiple siblings in the same family due to consanguinity. The importance of careful family history taking and genetic counselling are emphasised. Selected testing of ill infants and children for IEM yielded a positive 2% (264/13,500) results for IEMs in Malaysia. Out of the 264 patients, the spectrum of IEMs in Malaysia included organic acidurias (98), aminoacidopathies (78), urea cycle defects (54), neurotransmitter conditions (12) and lysosomal disorders, mainly mucopolysaccharidosis (14). Confirmatory studies of IEMs are an important aspect of management of IEMs. There is a need for more metabolic specialists and funding for diagnosis and treatment of IEMs in Malaysia. Long-term care issues and cost-effectiveness of IEM therapy, supportive and preventive aspects will need further studies in Malaysia.
Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Infant, Newborn ; Malaysia ; epidemiology ; Male ; Metabolism, Inborn Errors ; diagnosis ; epidemiology ; therapy

Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal recessive disorder. This paper reports three cases of SSADH deficiency in infants. The infants developed the symptoms including developmental delay, intellectual disability, hypotonia, hyporeflexia and seizures. The electroencephalogram (EEG) showed background slowing and focal spike discharges in all of 3 patients. Head magnetic resonance imaging (MRI) demonstrated abnormalities in 2 patients, including basal ganglia damage and increased T2-weighted signal in bilateral cerebral peduncles. Urinary organic acid analysis with gas chromatography-mass spectrometry (GC-MS) revealed increased levels of 4-hydroxybutyrate (GHB) in 3 patients. SSADH deficiency was definitely diagnosed based on the clinical manifestations and the results of urinary organic acid analysis in the 3 children. It was concluded that early urine organic acid analysis is essential for children presenting with mental retardation, neuropsychiatric disturbance or epilepsy of unknown etiology.
Amino Acid Metabolism, Inborn Errors ; diagnosis ; therapy ; Developmental Disabilities ; Diagnosis, Differential ; Female ; Humans ; Infant ; Succinate-Semialdehyde Dehydrogenase ; deficiency