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for Metabolic Diseases

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Welcome to Climb National Information Centre for Metabolic Diseases

List of Supported Inherited Metabolic Diseases

'P'

(all files are in pdf format)

Name Translations Also Known As

	Urdu	Punjabi	Welsh
Paediatric Metabolic Bone Disease	ü	ü
Paine Syndrome				Microcephaly-Spastic Diplegia Syndrome
Parkinson Disease – Juvenile				PDJ
Pearson Syndrome				Pearson Marrow-Pancreas Syndrome
Pelizaeus Merzbacher				PM
Pendred Syndrome				Goiter-Deafness Syndrome
Pentosuria				L-Xylulosuria
Peroxisomal Disorders - General
Phenylketonuria	ü	ü		PKU
Phosphoenolpyruvate Carboxykinase Deficiency				PEPCK
Phosphoglycerate Dehydrogenase Deficiency				PHGDH Deficiency
Phosphoglycerate Kinase Deficiency				Phosphoglycerokinase
Phosphoribosyl Pyrophosphate Synthetase Deficiency				PRPP Synthetase Deficiency
Phosphoribosyl Pyrophosphate Synthetase Superactivity				PRPP Synthetase Superactivity
Phosphoserine Phosphatase Deficiency				PSPH
Pickwickian Syndrome				Obesity Hypoventilation Syndrome
Pollitt Syndrome				Trichothiodystrophy Type C
Pontocerebellar Hypoplasia				PCH
Porphyria - General	ü	ü
Prader Willi Syndrome				PWS
Precocious Puberty				Familial Testotoxicosis
Prekallikrein Deficiency				Fletcher Factor Deficiency
Primary Hyperoxaluria				Hyperoxaluria
Primary Hypomagnesaemia with Secondary Hypocalcaemia				Hypomagnesemic Tetany
Progressive Familial Intrahepatic Cholestasis				Byler Disease
Prohormone Convertase Deficiency				Peptidase Deficiency
Prolidase Deficiency				Peptidase Deficiency
Propionic Acidaemia				PA
Protein C Deficiency				Hereditary Thrombophilia
Protein S Deficiency				PROS
Prune Belly Syndrome				Congenital Absence of Abdominal Muscles
Pseudoachondroplastic Dysplasia				Pseudoachondroplasia
Pseudocholinesterase Deficiency				Postanaesthetic Apnoea
Pseudo Hypoaldosteronism Type 1				PHA1
Pseudo Hypoaldosteronism Type 2				Gordon Syndrome
Pseudo Hypoparathyroidism				PHP
Pseudo Hypophosphatasia				PsHYPT
Pseudo Neonatal Adrenoleukodystrophy				Straight-Chain Acyl-CoA Oxidase Deficiency
Pseudo Xanthoma Elasticum				PXE
Pseudo Zellweger Syndrome
Pterin 4-Alpha-Carbinolamine Dehydratase Deficiency				Primapterinuria
Purine Disorders - General
Purine Nucleoside Phosphorylase Deficiency				PNP Deficiency
Pycnodysostosis				PYCD
Pyridoxamine 5’-Phosphate Oxidase Deficiency				PNPO Deficiency
Pyridoxine Deficiency				Vitamin B6 Deficiency
Pyridoxine Dependant Seizures				PDS
Pyridoxine Responsive Seizures				Pyridoxine-Responsive Epilepsy
Pyrimidine 5'Nucleotidase Deficiency				UMP Hydrolase Deficiency
Pyrroline 5-Carboxylase Synthetase Deficiency (Delta)				Glutamate Gamma-Semialdehyde Synthetase
Pyruvate Carboxylase Deficiency				PC Deficiency
Pyruvate Dehydrogenase Deficiency				Congential Infantile Lactic Acidosis
Pyruvate Dehydrogenase Phosphatase Deficiency				PDD Deficiency
Pyruvate Kinase Deficiency				PK Deficiency
Pyruvoyl Tetrahydropterin Synthase Deficiency (6)				6PTS

Documents are in pdf format - click here to download a reader if your computer does not support this

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