11/12/2023 0 Comments Maple syrup urine disease type 1bThe peripheral blood glucose (Glu) was 1.7 mmol/L, PH 7.235, partial pressure of oxygen (PaO 2) 123.3 mm Hg, partial pressure of carbon dioxide (PaCO 2) 13.9 mm Hg, base excess (BE) -18.44 mmol/L, lactic acid (Lac) 2.0 mmol/L, white blood cell count (WBC) 1.40 × 10 10/L, neutrophil percentage (N%) 10%, red blood cell count (RBC) 4.40 × 10 12/L, hemoglobin (Hb) 155 g/L, platelet (PLT) 443 × 10 9/L, total bilirubin (TBIL) 104.50 umol/L, direct bilirubin (DBIL) 7.50 umol/L, indirect bilirubin (IBIL) 97.00 umol/L, serum total protein (TP) 48.70 g/L, serum albumin (ALB) 34.60 g/L, uric acid (UA) 571.00 umol/L, myocardial enzyme spectrum - lactate dehydrogenase (LDH) 364.00 U/L, creatine kinase (CK) 240.00 U/L, creatine kinase isoenzyme (CK-MB) 29.99 U/L, α-hydroxybutyrate dehydrogenase (HBDH) 317.00 U/L. Laboratory tests mainly included peripheral blood glucose, blood gas analysis, blood routine, liver and kidney function, and myocardial zymography. The children had poor mental response, poor lactation, and were easily awakened during the disease. The doctor examined the baby and found that the child has poor response, hoarse cry, shortness of breath (48 times/min), nasal congestion, scattered pustules on the whole body skin especially the face and neck. The parents were healthy and denied family history of disease. The Apgar score was unknown and the child was mixed fed. The child had no birth asphyxia with a weight of 3.5 kg. The mother gave a natural birth at 40 + 1 weeks who was G1P1. The child getting cold after a bath three days ago which leads nasal congestion, slightly shortness of breath, poor breast intake, poor mental reaction and hoarse crying. The patient was an 8 days old female who with nasal congestion and poor response for 3 days. Diffusion-weighted imaging (DWI) has characteristic symmetric hyperintensity which is efficient to indicate the disease before it is confirmed by mass spectrometry and genetic testing. Different types of MSUD have different symptoms and different treatment methods, so early diagnosis is needed to reduce the neurological damage of abnormal metabolism. We present an extremely rare case of MSUD which involved the cervical cord, while most cases of nerve edema occur only in the brain. The acute phase is characterized by diffuse edema and locally severe edema. Thus, amino acid synthesis is affected, resulting in brain edema and abnormal myelination. Some scholars believe that the accumulation of BCAA in the brain will inhibit the activity of pyruvate dehydrogenase and α-ketoglutarate dehydrogenase which destroy the citric acid cycle. The mechanism of brain damage in MSUD patients is still unclear. This myelin dysplasia is a secondary change of long-term exposure to BCAA. The abnormal MRI findings were mainly increased signal intensity in T2-weighted images of the midbrain, brainstem, thalamus and globus pallidus. Most adolescents and young adults with MSUD have different severity of magnetic resonance imaging (MRI) white matter changes. The last four types are also called delayed type. MSUD can be divided into five types according to the central brain injury and metabolic acidosis: classic type, intermediate type, intermittent type, thiamin (vitamin B1, VB1) active type and dihydrothioctinamide acyl dehydrogenase (E3) type. Metabolic acidosis is the main cause of death in the first year while survivors often suffer from mental retardation, spastic palsy, cortical blindness and other neurological disorders. Three MSUD genotypes have been identified to date based on the genes involved: subtype 1α mutation affecting the Eα (BCKDHA) gene, subtype 1β mutation Eβ (BCKDHB) and subtype II mutation E2 (DBT) gene. Dihydrolipoamide branched chain transacylase E2(DBT) encodes the transacylase (E2) subunit. The BCKD complex is thought to be composed of a core of 24 transacylase (E2) subunits, and associated decarboxylase (E1), dehydrogenase (E3), and regulatory subunits. MSUD is a rare genetic disorder which manifested as impaired branched-chain amino acid (BCAA) metabolism caused by branched-chain α-ketoacid dehydrogenase (BCKD) complex deficiency. Maple syrup urine disease (MSUD) was first reported by pediatrician Menkes in 1954, as the α-ketoacid excreted in urine smells like maple syrup.
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |