LIBRO + ANEXOS ERRORES INNATOS DEL METABOLISMO

Libro Blanco de las ACES Pediátricas 2024 46 ❚ 8 Key Capabilities Advises senior colleagues on the investigation and management of a child and young person with the following conditions: •KC1.1 - Hyperammonaemia in an acutely unwell child (see Illustration C1 for details) •KC1.2 - Hypoglycaemia •KC1.3 - Cholestasis, liver failure or hepatomegaly/hepatosplenomegaly •KC1.4 - Cardiomyopathy •KC1.5 -Dysmorphic features, corneal clouding/cataracts and/or skeletal dysplasia •KC1.6 - Neurological regression and/or myopathy GPC 2, 3, 5, 7 Takes responsibility for the holistic investigation and management of a child and young person with the following conditions: •KC2.1 - Branched-chain organic aciduria (see Illustration B1 for details) •KC2.2 - Urea cycle disorder (see Illustration C2 for details) •KC2.3 - Glycogen storage disorder (see Illustration D1 for details) •KC2.4 - Galactosaemia, including dietary management and the early identification of need for educational support (see Illustration D2 for details) •KC2.5 - Long-chain fatty acid oxidation disorder, including dietary management and the management of intercurrent illnesses (see Illustration E2 for details) •KC2.6 - Lysosomal storage disorder (for which there is an approved treatment, see Illustration F1 for details) •KC2.7 - A mitochondrial disorder (see illustration H for details) GPC 2, 3, 5, 7 Takes responsibility for the holistic investigation and management of a child and young person with the following conditions: •KC3.1 - Phenylketonuria (see Illustration A1 for details). •KC3.2 - Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, including the counselling of a new family from newborn screening and the management of intercurrent illnesses (see Illustration E1 for details). GPC 1, 2, 3 KC4.1 - Understands the available modalities of genetic testing and uses this knowledge to select and consent for the appropriate genetic test for a child or young person with IMD (see illustration J1 for examples). KC4.2 - Understands the ACMG guidelines for variant classification and uses this knowledge to participate in genomic medicine MDTs and discuss the implications of genetic results with families (see illustration J1 for examples). GPC 1, 2, 3, 5