Supported Diseases Alfa

The National Information

Centre for Metabolic Diseases

Metabolic Diseases

'A'

	Disease		Also Known as

	Acanthocytosis		Abetalipoproteinaemia
	Acatalasaemia		Takahara's
	Aceruloplasminemia		Ceruloplasmin Deficiency
	Achondroplasia		Achondroplastic Dwarfism
	Acrodermatitis Enteropathica		AE
	Acromegaly		Marie Disease
	ACTH Deficiency		Adrenocorticotrophic Hormone Deficiency Isolated

	Acute Disseminated Encephalomyelitis		ADEM
	Acute Intermittent Porphyria		AIP
	Addison's Disease		Adredocortical Hypofunction
	Adenine Phosphoribosyltransferase Deficiency		ARPT Deficiency
	Adenosine Deaminase Deficiency		ADA Deficiency
	Adenosine Deaminase Superactivity		Adenosine Deaminase Overproduction
	Adenosylcobalamin Deficiency		Methylmalonic Aciduria due to Adenosylcobalamin Deficiency
	Adenylate Kinase Deficiency		AK Deficiency
	Adenylosuccinate Lyase Deficiency		Adenylosuccinase Deficiency
	Adrenoleukodystrophy – General		ALD
	Adrenoleukodystrophy – Adult		Adrenomyeloneuropathy/AMN
	Adrenoleukodystrophy – Neonatal		ALD – Neonatal
	Adrenoleukodystrophy – X-Linked		ALD – X-Linked
	Agammaglobulinaemia		Antibody Deficiency
	Agenesis of Corpus Callosum		ACC
	Aicardi Syndrome		Spasm-in-Flexion
	Aicardi-Goutieres Syndrome		AGS
	ALA-D Porphyria		Plumboporphyria
	Alagille Syndrome		AHD
	Alanine Ketoglutarate Aminotransferase Deficiency		GPT
	Alanine Synthase Deficiency (Beta)		UPB1
	Albinism		Hypopigmentation
	Albright Hereditary Osteodystrophy		AHO
	Albright Hereditary Osteodystrophy with Pseudo Hypoparathyroidism		AHO with PHP
	Albright Hereditary Osteodystrophy with Pseudo Pseudo Hypoparathyroidism		AHO with PPHP
	Aldolase Deficiency		ALD Deficiency
	Alexander Leukodystrophy		Alexander Disease
	Alkaptonuria		Alcaptonuria
	Alkyl-DHAP Synthase Deficiency		ADHAPS
	Alpers Disease		Christensen's Disease
	Alpha 1-Antitrypsin Deficiency		Hereditary Emphysema
	Alport Syndrome		Hereditary Nephritis
	Alstrom Syndrome		ALMS
	Aminobutyric Acid Transaminase Deficiency (Gamma)
	Aminoisobutyrate Pyruvate Aminotransferase Deficiency (Beta)		BAIBPAT Deficiency
	Amish Lethal Microcephaly		MCPHA
	Amyloidosis
	Androgen Insensitivity		Complete AIS
	Angelman Syndrome		AS
	Antiphospholipid Syndrome		Hughes' Syndrome
	Antithrombin Deficiency		AT Deficiency
	Antley Bixler Syndrome		ABS
	Apert Syndrome		Acrocephalosyndactylyl Type I
	Apolipoprotein C-II Deficiency		Hyperlipoproteinaemia Type 1B
	Arachidonic Acid Deficiency
	Arginase Deficiency		Hyperargininaemia
	Argininosuccinic Aciduria		Argininosuccinate Lyase Deficiency
	Aromatic L-Amino Acid Decarboxylase Deficiency		ALADD
	Arterial Calcification of Infancy		Infantile Arteriosclerosis
	Arthrogryposis, Renal Dysfunction and Cholestasis		ARC Syndrome
	Arylsulphatase A Pseudo Deficiency		ASA
	Aspartylglucosaminuira		Aspartylglucosaminidase Deficiency
	Asperger Syndrome		Autism – Asperger’s Type
	Ataxia Telangiectasia		Louis-Bar Syndrome
	Attention Deficit Hyperactivity Disorder		ADHD
	Autism		Kanner Syndrome
	Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy		APECED Syndrome