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British Inherited Metabolic Diseases Group

Paediatric Guidelines

All | A C D F G H I K L M N O P R U V
A
Arginase
Argininosuccinic Aciduria (ASA)
C
Carnitine Acylcarnitine Translocase Deficiency (CACT deficiency)
Carnitine Transporter Deficiency (OCTN2, CTD, Carnitine)
Citrin deficiency (Citrullinaemia Type II)
Citrullinaemia (ASS deficiency, Citrullinaemia Type 1) - Also see "Urea Cycle Disorders 2"
CPS deficiency (Carbamyl Phosphate Synthetase Deficiency) - "Urea Cycle Disorders 1"
CPT1 Deficiency (Carnitine Palmitoyl Transferase 1 Deficiency)
CPT2 Deficiency (Carnitine Palmitoyl Transferase 2 Deficiency)
D
Defects of Ketone metabolism (transferase, thiolase deficiences, T2 deficiency, Succinyl CoA Transferase [SCOT], beta-ketothiolase)
F
Fructose-1,6-biphosphatase deficiency
G
GLUT1 Deficiency (Glucose transporter deficiency, GLUT1-DS, Hypoglycorrhachia)
Glutaric Aciduria Type 1 (GA1)
Glycerol Kinase Deficiency (isolated, same as Ketotic Hypoglycaemia)
***IMPORTANT NOTE: some children have glycerol kinase deficiency as part of a contiguous gene deletion causing in addition congenital adrenal hypoplasia and muscular dystrophy. These patients require different emergency management to take account of their endocrine dysfunction.*** Standard , A&E , Child dietary emergency regimen , Making intravenous fluids for metabolic patients ,
Glycogen Storage Disease Type 1a (GSD Type 1A, Glucose-6-phosphatase deficiency)
Glycogen storage disease Type 1b (GSD1b, Glucose-6-phosphate translocase deficiency)
Glycogen Storage Disease Type III (GSD 3, Debrancher deficiency)
Glycogen Synthase Deficiency (GSD0, Glycogen Storage Disease Type Zero)
H
HHH SYNDROME (Triple H Syndrome, Hyperammonaemia, Hyperornithinaemia, Homocitrullinuria)
HMG CoA Lyase Deficiency (3-methyl-3-hydroxyglutaryl CoA lyase deficiency)
HMG CoA Synthase Deficiency (HMGCS Deficiency, HMGCS2, 3-methyl-3-hydroxyglutaryl CoA synthase deficiency)
Hyperammonaemia due to transport defects (Lysinuric protein intolerance, LPI, hyperornithinaemia, hyperammonaemia, homocitrullinuria, HHH syndrome)
I
Isovaleric Acidaemia (IVA, isovaleryl CoA dehydrogenase deficiency)
K
Ketotic Hypoglycaemia (Accelerated starvation, glycerol kinase deficiency and glycogen synthase deficiency)
L
LCHAD Deficiency (Long Chain Hydroxyacyl CoA Dehydrogenase Deficiency, LCHADD)
LIPIN 1
Lysinuric Protein Intolerance (LPI)
M
MADD Deficiency (Multiple Acyl CoA Dehydrogenase Deficiency, MADD, Glutaric Aciduria Type II)
Maple Syrup Urine Disease (MSUD, Maple syrup disease, Branched chain keto acid dehydrogenase deficiency)
MCAD Deficiency (medium chain acyl CoA dehydrogenase deficiency)
Methylmalonic Acidaemia (MMA, Methylmalonyl CoA mutase deficiency)
N
NAGS deficiency (N-acetylglutamate synthetase deficiency)
O
OTC Deficiency (Ornithine Transcarbamylase Deficiency, Ornithine Carbamyl Transferase [OCT] deficiency)
P
Porphyria (Acute Intermittent Porphyria, Variegate Porphyria, Hereditary Coproporphyria)
There are no paediatric guidelines for acute porphyria - this links to the guidelines for acute porphyria in adults written by the National Acute Porphyria Service. A&E
Propionic acidaemia (PA)
R
Rhabdomyolysis in young children
U
Urea Cycle Disorders 1 (OTC (OCT, ornithine transcarbamylase, ornithine carbamyl transferase) deficiency and CPS (carbamyl phosphate synthetase) deficiency)
Urea Cycle Disorders 2 (Citrullinaemia, ASS deficiency, ASL deficiency, Argininosuccinic aciduria)
V
VLCAD Deficiency (Very Long Chain Acyl CoA Dehydrogenase Deficiency)