Inborn Errors of Metabolism/Aminoacidurias

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Total cards: 24•Content version: v4•Public deck•Updated: 8/1/2026

Card preview (24)

Front (Question)

Cystinuria (and cystinosis) is _____ and is tested with _____.

Back (Answer)

An increase in cysteine. Cyanide nitroprusside.

Front (Question)

Cystinosis

Back (Answer)

Intracellular deposition of cysteine within lysosomes. Sx include Polyuria, Polydipsia, Dehydration, Vomiting

Front (Question)

_____ readily pass through glomerular filtration barrier and are reabsorbed in the proximal tubule.

Back (Answer)

Amino acids

Front (Question)

Maple Syrup Urine Disease

Back (Answer)

BCKA (keto-acids) – eg, Leucine, Isoleucine, Valine increase in blood, CSF, urine Prenatal and neonatal screening commonly detect MSUD

Front (Question)

Cystic Fibrosis

Back (Answer)

AR disease affecting lungs, pancreas, liver, kidney, intestine. Sweat tests (collection and measurement of sweat), newborn screening, genetic tests are used to test for CF An AR genetic disease that causes difficulty breathing and lung infections due to mucus buildup

Front (Question)

Cystic fibrosis affects _____.

Back (Answer)

mostly the lungs but also pancreas, liver, kidneys, intestines

Front (Question)

CF requires _____ faulty genes. Chloride ions in CF _____.

Back (Answer)

2 faulty genes Cl- ions are blocked from leaving lung cells due to missing or mutated CFTR

Front (Question)

CFTR

Back (Answer)

Cystic fibrosis transmembrane (conductance) regulator

Front (Question)

Hartnup Syndrome

Back (Answer)

Pellegra-like dermatosis. Affects absorption of nonpolar amino acids – eg, tryptophan

#10

Front (Question)

PKU

Back (Answer)

Phenylalanine buildup in blood from a lack of phenylalanine hydroxylase.

#11

Front (Question)

Tyrosinosis/Tyrosinemia

Back (Answer)

Defect in fumarylacetoacetase (tyrosine levels increase in blood and urine)

#12

Front (Question)

Laboratory test for tyrosinosis

Back (Answer)

Ion-exchange column chromatography

#13

Front (Question)

Results of tyrosinosis

Back (Answer)

Liver failure, rickets, renal tubular dysfunction and polyneuropathy

#14

Front (Question)

First discovered inborn error of metabolism

Back (Answer)

Alkaptonuria

#15

Front (Question)

In alkaptonuria, urine, plasma, cartilage, and connective tissue can turn

Back (Answer)

Black

#16

Front (Question)

Homocysteinuria is an excess of Homocysteinuria is a deficiency of Why is homocysteinuria difficult to measure?

Back (Answer)

homocysteine in urine cystathionine beta synthase Difficult to measure (bound to other thiols)

#17

Front (Question)

MSUD

Back (Answer)

Maple Syrup Urine Disease: Rare genetic disorder involving deficiency of branched chain alpha keto acid dehydrogenase complex

#18

Front (Question)

MSUD is a buildup of

Back (Answer)

Leucine, Isoleucine, Valine

#19

Front (Question)

MSUD uses a modified _____.

Back (Answer)

Guthrie test that detects elevated plasma Leucine

#20

Front (Question)

Alkaptonuria is an accumulation of _____ due to _____.

Back (Answer)

Homogentisic acid (HGA) accumulation due to homogentisate oxidase

#21

Front (Question)

Problems resulting from alkaptonuria (3)

Back (Answer)

Heart problems, kidney stones, prostate stones

#22

Front (Question)

Ochronosis

Back (Answer)

Buildup of black pigmentation in connective tissue.

#23

Front (Question)

Tryptophan can be converted into _____, _____, and _____.

Back (Answer)

5 HT, melatonin, niacin

#24

Front (Question)

Proximal tubular cells are unable to reabsorb amino-acids in this condition

Back (Answer)

Cystinosis