Biochemical Genetics

Phenylketonuria

Maple Syrup Urine Disease

Homocystinuria

Galactosemia

Biotinidase Deficiency

Hypothyroidism

Adrenal Hyperplasia

Arginase Deficiency

Arginosuccinic aciduria
(Agininosuccinicate lyase deficiency)

Citrullinemia-1
(Argininosuccinicate synthase deficiency)

Citrullinemia-II
(Citrin-mitochondrial aspartate-glutamate transporter deficiency)

Carbomyl Phophate Deficiency

N-acetyl glutamate synthase

Ornithine transcarbamylase deficiency

Hyperammonemia-Hyperornithinemia-Homocitrullinuria Syndrome
(HHH)

Tyrosinemia I

Tyrosinemia II

Tyrosinemia III
(4-hydroxyphenylpyruvic acid deoxygenate deficiency)

Propionic Acidemia

Methylmalonic Aciduria

Methylmalonyl-CoA mutase deficiency

Cobalamin defects A, B
(Adenosylcobalamin)

Cobalamin defects C, D

Multiple carboxylase deficiency

3-hydroxyisobutyric aciduria

Isovaleric Acidemia

2-methylbutyrylglycinuria

3-Methylcrotonyl-CoA carboxylase deficiency
(3-MCC)

3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMG)

Betaketothiolase deficiency

Methylglutaconic aciduria

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency

Glutaric aciduria type 1

Malonic aciduria

Carnitine uptake defect

Carnitine palmitoyl transferase deficiency type I

Short chain acyl-CoA dehydrogenase deficiency

Medium chain acyl-CoA dehydrogenase deficiency

Very long-chain acyl-CoA dehydrogenase deficiency

Long-chain hydroxyacyl-CoA dehydrogenase deficiency

Tri-functional protein deficiency

Carnitine palmitoyl transferase deficiency type II

Glutaric Aciduria II
(Multiple acyl-CoA dehydrogenase deficiency)

Carnitine/acylcarnitine translocase deficiency

2,4-Dienoyl-CoA reductase deficiency

Hydroxyacyl-CoA dehydrogenase deficiency

Transfusion and NBS

Liver failure and NBS

Renal failure and NBS

Hemolysis and NBS

MCAD carriers and NBS

Valproic acid and NBS

Pavilion acid and NBS

Alkaptonuria

Carbamoyl Phosphate Synthase Deficiency

Hereditary Fructose Intolerance

von Gierke disease

Glycogen Storage Disease Type 1

Cori Disease

Glycogen Storage Disease Type III

Anderson Disease

Glycogen Storage Disease Type IV

Glycogen Storage Disease Type VI

McArdle Disease

Glycogen Storage Disease Type V

Pompe Disease
(GSD-II)

Congenital Adrenal Hyperplasia

Androgen Insensitivity

Familial Hypercholesterolemia

Hurler Syndrome
(MPS type 1)

Hunter Syndrome
(MPS Type II)

Sanfilippo syndrome
(MPS Type III)

Morquio Syndrome
(MPS Type IV)

Maroteaux-Lamy Syndrome
(Mucopolysaccharidosis Type V)

Sly Syndrome
(Mucopolysaccharidosis Type VII)

Tay-Sachs Disease

Gaucher Disease

Niemann-Pick Disease

Lesch-Nyhan Disease

Adenosine deaminase deficiency

Purine nucleoside phosphorylase

Hereditary orotic aciduria

Acute intermittent porphyria

Hereditary coproporphyria

Porphyria Variegata

Congenital erythropoietic porphyria

Erythropoietic protoporphyria

Wilson Disease

Menkes disease

Zellweger Syndrome

Adrenoleukodystrophy

Myolconic Epilepsy and Ragged Red Fiber Disease
MERRF

Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes
MELAS

Leigh Disease

Leber Hereditary Optic Neuropathy

Barth Syndrome

Guthrie Test

Maternal Phenylketonuria

Smith-Lemli-Opitz Syndrome

Neurodegeneration, Ataxia, and Retinitis Pigmentosa
NARP

Na Benzoate and Na Phenylbutyrate

Gyrate Atrophy

Creatine Deficiency Syndromes

Cystinosis

Nonketotic Hyperglycinemia

Canavan Disease

Pyruvate Dehydrogenase Deficiency

Mitochondrial Depletion Syndromes

Pearson Syndrome

Kearns-Sayre Syndrome

N-glycosylation defects

O-glycosylation defects

PMM2-CDG
(CDG 1a)

MPI-CDG
(CDG 1b)

SRD5A3-CDG
(CDG 1q)

Fabry Disease

Rhizomelic Chondrodysplasia Punctata

I-cell disease

Impaired tetrahydrobiopterin metabolism

Impaired tetrahydrobiopterin synthesis

Dopa-responsive Dystonia

Sandhoff Disease

Deafness mtDNA

Lipoprotein Lipase Deficiency

Metachromatic leukodystrophy

Krabbe Disease

Urine oligosaccharide chromatography

Lysinuric Protein Intolerance

Hartnup Disease

Cystinuria

Pyridoxine-dependent seizures

Cerebral Folate Deficiency

GLUT1 deficiency

Mitochondrial Neurogastrointestinal Encephalomyopathy
(MNGIE)

Chronic Progressive External Ophthalmoplegia
(CPEO)

Refsum Disease

Farber lipogranulomatosis

Wolman Disease
(Acid Lipase Deficiency)

Schindler Disease

Pycnodysostosis

Happle Syndrome

Fructose 1,6 bisphosphatase Def

Sulfite Oxidase Deficiency/
Molybdenum Cofactor Deficiency

Porphyria Cutanea Tarda