Biochemistry Block Iii: Amino Acid Metabolism

Front 1

Caused by a defective Na+/amino acid transporter for neutral amino acids

Back 1

Hartnup Disease

Front 2

Caused by a defective Na+ transporter for cysteine and other basic amino acids- causes kidney stones from buildup of insoluble cysteine

Back 2

Cystinuria

Front 3

Deficiency in the Urea cycle in which NH4 and CO2 cannot be converted to carbamoyl phosphate- causes neonatal catastrophe.

Back 3

CPS I Deficiency

Front 4

Enzyme deficiency in the urea cycle that causes the buildup of carbamoyl phosphate and thus, orotic acid:

Back 4

Ornithine Transcarbamolase (OT) Deficiency

Front 5

This enzyme deficiency in the urea cycle is less severe, resulting in the buildup of argininosuccinate which can be excreted in the urine:

Back 5

Argininosuccinic Aciduria - Arginosuccinase Deficiency

Front 6

What is the primary enzyme deficiency in PKU?

Back 6

Phenylalanine Hydroxylase

Front 7

Mutations in BH2 synthase or reductase are minor causes of what disease?

Back 7

PKU

Front 8

The enzyme deficiency in PKU is responsible for the conversion of Phenyalanine to what?

Back 8

Tyrosine

Front 9

Thyroxine, melanin, Norepinephrine and epinephrine are all derived from which amino acid?

Back 9

Tyrosine

Front 10

This disease is caused by a deficiency in tyrosine aminotransferase (TAT) in the catabolism of phenylalanine & tyrosine:

Back 10

Tyrosinemia II

Front 11

This disease causes eye and skin lesions and is a defect in the catabolism of tyrosine and phenylalanine:

Back 11

Tyrosinemia II

Front 12

Disease caused by a deficiency in the enzyme Homogentisate Dioxygenase in the catabolism of phenylalanine and tyrosine. Causes accumulation of homogentisate, has mild effects in childhood and causes arthritis in adults:

Back 12

Alcaptonuria

Front 13

Caused by a deficiency in fumarylacetoacetase in the catabolism of tyrosine & phenylalanine. Leads to renal tubular dysfunction and affected children rarely live past 1 year.

Back 13

Tyrosinemia I

Front 14

Benign tyrosemia of newborns by delayed development of enzymes involved in tyrosine metabolism:

Back 14

Transient Tyrosinemia of Newborns (TTN)

Front 15

Caused by a deficiency in cystathione synthase in the conversion of methionine to cysteine. Causes accumulation of methionine and homocysteine:

Back 15

Classic Homocysteinuria

Front 16

This disease causes a multisystem disorder of connective tissue, CNS & cardiovascular system and affected patients may have heart disease in their teens:

Back 16

Homocysteineuria

Front 17

Caused by defects in the enzymes that make up the glycine cleavage complex causing a buildup of glycine:

Back 17

Nonketotic hyperglycinemia (glycine encephalopathy)

Front 18

Caused by a deficiency in α-Keto acid dehydrogenase in the breakdown of BCAA. Untreated patients show significant developmental delay, neurological problems, and usu. die within the first few months.

Back 18

Maple Syrup Urine Disease

Front 19

A deficiency in which enzyme causes Maple Syrup Urine Disease?

Back 19

α-Keto acid dehydrogenase

Front 20

Patients with this disease have metabolic acidosis, elevated proprionic acid and glycine in blood, and ammonemia.

Back 20

Propionic Acidemia

Front 21

Caused by a defect in the enzyme proponyl CoA carboyxlase (PCCA) which is involved in the conversion of Propionyl CoA to Succinyl CoA

Back 21

Propionic Acidemia

Front 22

This disease is less frequently caused by a problem in biotin uptake or utilization or a B12 deficiency:

Back 22

Propionic Acidemia