Supported Diseases Papa

The National Information Centre for Metabolic Diseases

Metabolic Diseases

'P'

	Disease		Also Known as
	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		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
	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
	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

Disease

Paine Syndrome

Parkinson Disease – Juvenile

Pearson Syndrome

Pelizaeus Merzbacher

Pendred Syndrome

Pentosuria

Peroxisomal Disorders - General

Phenylketonuria

Phosphoenolpyruvate Carboxykinase Deficiency

Phosphoglycerate Dehydrogenase Deficiency

Phosphoglycerate Kinase Deficiency

Phosphoribosyl Pyrophosphate Synthetase Deficiency

Phosphoribosyl Pyrophosphate Synthetase Superactivity

Phosphoserine Phosphatase Deficiency

Pollitt Syndrome

Pontocerebellar Hypoplasia

Porphyria - General

Prader Willi Syndrome

Precocious Puberty

Prekallikrein Deficiency

Primary Hyperoxaluria

Progressive Familial Intrahepatic Cholestasis

Prohormone Convertase Deficiency

Prolidase Deficiency

Propionic Acidaemia

Protein C Deficiency

Protein S Deficiency

Prune Belly Syndrome

Pseudoachondroplastic Dysplasia

Pseudocholinesterase Deficiency

Pseudo Hypoaldosteronism Type 1

Pseudo Hypoparathyroidism

Pseudo Hypophosphatasia

Pseudo Neonatal Adrenoleukodystrophy

Pseudo Xanthoma Elasticum

Pseudo Zellweger Syndrome

Pterin 4-Alpha-Carbinolamine Dehydratase Deficiency

Purine Disorders - General

Purine Nucleoside Phosphorylase Deficiency

Pycnodysostosis

Pyridoxine Deficiency

Pyrroline 5-Carboxylase Synthetase Deficiency (Delta)

Pyruvate Carboxylase Deficiency

Pyruvate Dehydrogenase Deficiency

Pyruvate Dehydrogenase Phosphatase Deficiency

Pyruvoyl Tetrahydropterin Synthase Deficiency (6)