Expert consensus on screening, diagnosis and treatment of multiple carboxylase deficiency / 浙江大学学报·医学版

Multiple carboxylase deficiency (MCD) includes autosomal recessive holocarboxylase synthetase (HLCS) deficiency and biotinidase (BTD) deficiency, which are caused by and gene mutations respectively. Neonatal screening for HLCS deficiency is based on 3-hydroxyisovaleryl carnitine in dry blood filter paper, and BTD deficiency is based on BTD activity determination. HLCS deficiency and BTD deficiency are characterized by neurocutaneous syndrome and organic aciduria, however, they are different in onset age, neurological symptoms and metabolic decompensation, which needed to be differentiated from acquired biotin deficiency or other genetic metabolic diseases. The diagnosis of the disease requires a combination of biochemical characteristics of hematuria, enzyme activity determination and genetic test. Routine biotin doses are effective for most MCD patients. This consensus is intended to benefit early screening and diagnosis of MCD.

Diagnosis, treatment and follow-up in four children with biotinidase deficiency from Pakistan

Biotinidase deficiency is an inherited disorder in which the vitamin biotin is not recycled. If untreated, affected individuals develop neurological and cutaneous symptoms. Untreated individuals with biotinidase deficiency either succumb to disease or are left with significant morbidity. We describe clinical course and follow-up of 4 children from Pakistan. All 4 presented with classical symptoms of biotinidase deficiency and responded dramatically to oral biotin within days to weeks. Biotinidase deficiency is reported in Pakistani children from different part of world, however; there is no such report from Pakistan. This highlights lack of awareness of biotinidase deficiency among physicians in Pakistan.

La importancia de una ley a tiempo: Presentación de un caso de deficiencia de biotinidasa no diagnosticado por pesquisa neonatal / The importance of a law on time: presentation of a girl with biotinidase deficiency who was not picked up through the neonatal screening

En agosto de 2008, la Provincia de Buenos Aires no había adherido a la Ley Nacional 26279, que establece la obligatoriedad de la pesquisa neonatal para la deficiencia de biotinidasa, entre otras enfermedades. En esa fecha, nace en la Provinciade Buenos Aires una niña que derivan desde una terapia intensiva pediátrica al Hospital Nacional de Pediatría Dr. Prof. J. P. Garrahan, a los 58 días de vida, por alteración del sensorio, acidosis metabólica, hiperlacticoacidemia, alopecia, conjuntivitis y erupción cutánea eritematosa escaldada. Por estaclínica (de 13 días de evolución) se mide la actividad plasmática de biotinidasa, que resultó baja. Se inicia tratamiento con biotina y revierten rápidamente las alteraciones bioquímicas que presentaba. Si se hubiera hecho la pesquisa neonatal, estaniña no hubiera estado expuesta a riesgo de muerte por la enfermedad y se hubiese asegurado (por el inicio presintomático del tratamiento), un desarrollo normal, ya que las lesiones neurológicas no siempre retrogradan o no lo hacen ad integrum.